SNP Links for Protein (Select 1023300856) - SNP

Links from Protein

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Select item 14873351261.

rs1487335126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:149545664 (GRCh38)
X:148627210 (GRCh37)
Canonical SPDI:: NC_000023.11:149545663:T:C
Gene:: EOLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.149545664T>C, NW_004070890.2:g.5070062T>C, NC_000023.10:g.148627210T>C, NM_178124.6:c.34T>C, NM_178124.5:c.34T>C, NM_178124.4:c.34T>C, XM_005262349.5:c.233T>C, XM_005262349.4:c.34T>C, XM_005262349.3:c.34T>C, XM_005262349.2:c.34T>C, XM_005262349.1:c.34T>C, NM_001171909.4:c.34T>C, NM_001171909.3:c.34T>C, NM_001171909.2:c.34T>C, NM_001171909.1:c.34T>C, NM_001171907.3:c.34T>C, NM_001171907.2:c.34T>C, NM_001171907.1:c.34T>C, NM_001171908.3:c.34T>C, NM_001171908.2:c.34T>C, NM_001171908.1:c.34T>C, NM_001324276.2:c.34T>C, NM_001324276.1:c.34T>C, NM_001324279.2:c.34T>C, NM_001324279.1:c.34T>C, NM_001324280.2:c.34T>C, NM_001324280.1:c.34T>C, NM_001324277.2:c.34T>C, NM_001324277.1:c.34T>C, NM_001324278.2:c.34T>C, NM_001324278.1:c.34T>C, NM_001324275.2:c.34T>C, NM_001324275.1:c.34T>C, NM_001324274.2:c.34T>C, NM_001324274.1:c.34T>C, XM_047442629.1:c.332T>C, XM_047442630.1:c.302T>C, NP_835225.2:p.Tyr12His, XP_005262406.3:p.Leu78Ser, NP_001165380.1:p.Tyr12His, NP_001165378.1:p.Tyr12His, NP_001165379.1:p.Tyr12His, NP_001311205.1:p.Tyr12His, NP_001311208.1:p.Tyr12His, NP_001311209.1:p.Tyr12His, NP_001311206.1:p.Tyr12His, NP_001311207.1:p.Tyr12His, NP_001311204.1:p.Tyr12His, NP_001311203.1:p.Tyr12His, XP_047298585.1:p.Leu111Ser, XP_047298586.1:p.Leu101Ser

Select item 14836372432.

rs1483637243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:149546785 (GRCh38)
X:148628331 (GRCh37)
Canonical SPDI:: NC_000023.11:149546784:T:G
Gene:: EOLA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.149546785T>G, NW_004070890.2:g.5071183T>G, NC_000023.10:g.148628331T>G, NM_178124.6:c.300T>G, NM_178124.5:c.300T>G, NM_178124.4:c.300T>G, XM_005262349.5:c.*37T>G, XM_005262349.4:c.300T>G, XM_005262349.3:c.300T>G, XM_005262349.2:c.300T>G, XM_005262349.1:c.300T>G, NM_001171909.4:c.300T>G, NM_001171909.3:c.300T>G, NM_001171909.2:c.300T>G, NM_001171909.1:c.300T>G, NM_001171907.3:c.300T>G, NM_001171907.2:c.300T>G, NM_001171907.1:c.300T>G, NM_001171908.3:c.300T>G, NM_001171908.2:c.300T>G, NM_001171908.1:c.300T>G, NM_001324276.2:c.300T>G, NM_001324276.1:c.300T>G, NM_001324279.2:c.300T>G, NM_001324279.1:c.300T>G, NM_001324280.2:c.300T>G, NM_001324280.1:c.300T>G, NM_001324277.2:c.300T>G, NM_001324277.1:c.300T>G, NM_001324278.2:c.300T>G, NM_001324278.1:c.300T>G, NM_001324275.2:c.300T>G, NM_001324275.1:c.300T>G, NM_001324274.2:c.300T>G, NM_001324274.1:c.300T>G, XM_047442629.1:c.*37T>G, XM_047442630.1:c.*37T>G

Select item 14825581003.

rs1482558100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:149546795 (GRCh38)
X:148628341 (GRCh37)
Canonical SPDI:: NC_000023.11:149546794:G:T
Gene:: EOLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.149546795G>T, NW_004070890.2:g.5071193G>T, NC_000023.10:g.148628341G>T, NM_178124.6:c.310G>T, NM_178124.5:c.310G>T, NM_178124.4:c.310G>T, XM_005262349.5:c.*47G>T, XM_005262349.4:c.310G>T, XM_005262349.3:c.310G>T, XM_005262349.2:c.310G>T, XM_005262349.1:c.310G>T, NM_001171909.4:c.310G>T, NM_001171909.3:c.310G>T, NM_001171909.2:c.310G>T, NM_001171909.1:c.310G>T, NM_001171907.3:c.310G>T, NM_001171907.2:c.310G>T, NM_001171907.1:c.310G>T, NM_001171908.3:c.310G>T, NM_001171908.2:c.310G>T, NM_001171908.1:c.310G>T, NM_001324276.2:c.310G>T, NM_001324276.1:c.310G>T, NM_001324279.2:c.310G>T, NM_001324279.1:c.310G>T, NM_001324280.2:c.310G>T, NM_001324280.1:c.310G>T, NM_001324277.2:c.310G>T, NM_001324277.1:c.310G>T, NM_001324278.2:c.310G>T, NM_001324278.1:c.310G>T, NM_001324275.2:c.310G>T, NM_001324275.1:c.310G>T, NM_001324274.2:c.310G>T, NM_001324274.1:c.310G>T, XM_047442629.1:c.*47G>T, XM_047442630.1:c.*47G>T, NP_835225.2:p.Val104Phe, NP_001165380.1:p.Val104Phe, NP_001165378.1:p.Val104Phe, NP_001165379.1:p.Val104Phe, NP_001311205.1:p.Val104Phe, NP_001311208.1:p.Val104Phe, NP_001311209.1:p.Val104Phe, NP_001311206.1:p.Val104Phe, NP_001311207.1:p.Val104Phe, NP_001311204.1:p.Val104Phe, NP_001311203.1:p.Val104Phe

Select item 14732454564.

rs1473245456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149546902 (GRCh38)
X:148628448 (GRCh37)
Canonical SPDI:: NC_000023.11:149546901:C:T
Gene:: EOLA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.149546902C>T, NW_004070890.2:g.5071300C>T, NC_000023.10:g.148628448C>T, NM_178124.6:c.417C>T, NM_178124.5:c.417C>T, NM_178124.4:c.417C>T, XM_005262349.5:c.*154C>T, XM_005262349.4:c.417C>T, XM_005262349.3:c.417C>T, XM_005262349.2:c.417C>T, XM_005262349.1:c.417C>T, NM_001171909.4:c.417C>T, NM_001171909.3:c.417C>T, NM_001171909.2:c.417C>T, NM_001171909.1:c.417C>T, NM_001171907.3:c.417C>T, NM_001171907.2:c.417C>T, NM_001171907.1:c.417C>T, NM_001171908.3:c.417C>T, NM_001171908.2:c.417C>T, NM_001171908.1:c.417C>T, NM_001324276.2:c.417C>T, NM_001324276.1:c.417C>T, NM_001324279.2:c.417C>T, NM_001324279.1:c.417C>T, NM_001324280.2:c.417C>T, NM_001324280.1:c.417C>T, NM_001324277.2:c.417C>T, NM_001324277.1:c.417C>T, NM_001324278.2:c.417C>T, NM_001324278.1:c.417C>T, NM_001324275.2:c.417C>T, NM_001324275.1:c.417C>T, NM_001324274.2:c.417C>T, NM_001324274.1:c.417C>T, XM_047442629.1:c.*154C>T, XM_047442630.1:c.*154C>T

Select item 14724511645.

rs1472451164 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149546923 (GRCh38)
X:148628469 (GRCh37)
Canonical SPDI:: NC_000023.11:149546922:C:T
Gene:: EOLA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.149546923C>T, NW_004070890.2:g.5071321C>T, NC_000023.10:g.148628469C>T, NM_178124.6:c.438C>T, NM_178124.5:c.438C>T, NM_178124.4:c.438C>T, XM_005262349.5:c.*175C>T, XM_005262349.4:c.438C>T, XM_005262349.3:c.438C>T, XM_005262349.2:c.438C>T, XM_005262349.1:c.438C>T, NM_001171907.3:c.438C>T, NM_001171907.2:c.438C>T, NM_001171907.1:c.438C>T, NM_001171908.3:c.438C>T, NM_001171908.2:c.438C>T, NM_001171908.1:c.438C>T, NM_001324280.2:c.438C>T, NM_001324280.1:c.438C>T, NM_001324277.2:c.438C>T, NM_001324277.1:c.438C>T, NM_001324278.2:c.438C>T, NM_001324278.1:c.438C>T, NM_001324275.2:c.438C>T, NM_001324275.1:c.438C>T, NM_001324274.2:c.438C>T, NM_001324274.1:c.438C>T, XM_047442629.1:c.*175C>T, XM_047442630.1:c.*175C>T

Select item 14317718326.

rs1431771832 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: X:149545801 (GRCh38)
X:148627347 (GRCh37)
Canonical SPDI:: NC_000023.11:149545800:GG:G
Gene:: EOLA1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000023.11:g.149545802del, NW_004070890.2:g.5070200del, NC_000023.10:g.148627348del, NM_178124.6:c.172del, NM_178124.5:c.172del, NM_178124.4:c.172del, XM_005262349.5:c.371del, XM_005262349.4:c.172del, XM_005262349.3:c.172del, XM_005262349.2:c.172del, XM_005262349.1:c.172del, NM_001171909.4:c.172del, NM_001171909.3:c.172del, NM_001171909.2:c.172del, NM_001171909.1:c.172del, NM_001171907.3:c.172del, NM_001171907.2:c.172del, NM_001171907.1:c.172del, NM_001171908.3:c.172del, NM_001171908.2:c.172del, NM_001171908.1:c.172del, NM_001324276.2:c.172del, NM_001324276.1:c.172del, NM_001324279.2:c.172del, NM_001324279.1:c.172del, NM_001324280.2:c.172del, NM_001324280.1:c.172del, NM_001324277.2:c.172del, NM_001324277.1:c.172del, NM_001324278.2:c.172del, NM_001324278.1:c.172del, NM_001324275.2:c.172del, NM_001324275.1:c.172del, NM_001324274.2:c.172del, NM_001324274.1:c.172del, XM_047442629.1:c.470del, XM_047442630.1:c.440del, NP_835225.2:p.Val58fs, XP_005262406.3:p.Gly124fs, NP_001165380.1:p.Val58fs, NP_001165378.1:p.Val58fs, NP_001165379.1:p.Val58fs, NP_001311205.1:p.Val58fs, NP_001311208.1:p.Val58fs, NP_001311209.1:p.Val58fs, NP_001311206.1:p.Val58fs, NP_001311207.1:p.Val58fs, NP_001311204.1:p.Val58fs, NP_001311203.1:p.Val58fs, XP_047298585.1:p.Gly157fs, XP_047298586.1:p.Gly147fs

Select item 14281342277.

rs1428134227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149546743 (GRCh38)
X:148628289 (GRCh37)
Canonical SPDI:: NC_000023.11:149546742:C:T
Gene:: EOLA1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.149546743C>T, NW_004070890.2:g.5071141C>T, NC_000023.10:g.148628289C>T, NM_178124.6:c.258C>T, NM_178124.5:c.258C>T, NM_178124.4:c.258C>T, XM_005262349.5:c.457C>T, XM_005262349.4:c.258C>T, XM_005262349.3:c.258C>T, XM_005262349.2:c.258C>T, XM_005262349.1:c.258C>T, NM_001171909.4:c.258C>T, NM_001171909.3:c.258C>T, NM_001171909.2:c.258C>T, NM_001171909.1:c.258C>T, NM_001171907.3:c.258C>T, NM_001171907.2:c.258C>T, NM_001171907.1:c.258C>T, NM_001171908.3:c.258C>T, NM_001171908.2:c.258C>T, NM_001171908.1:c.258C>T, NM_001324276.2:c.258C>T, NM_001324276.1:c.258C>T, NM_001324279.2:c.258C>T, NM_001324279.1:c.258C>T, NM_001324280.2:c.258C>T, NM_001324280.1:c.258C>T, NM_001324277.2:c.258C>T, NM_001324277.1:c.258C>T, NM_001324278.2:c.258C>T, NM_001324278.1:c.258C>T, NM_001324275.2:c.258C>T, NM_001324275.1:c.258C>T, NM_001324274.2:c.258C>T, NM_001324274.1:c.258C>T, XM_047442629.1:c.556C>T, XM_047442630.1:c.526C>T, XP_005262406.3:p.Arg153Cys, XP_047298585.1:p.Arg186Cys, XP_047298586.1:p.Arg176Cys

Select item 14197219778.

rs1419721977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149545644 (GRCh38)
X:148627190 (GRCh37)
Canonical SPDI:: NC_000023.11:149545643:G:A
Gene:: EOLA1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.149545644G>A, NW_004070890.2:g.5070042G>A, NC_000023.10:g.148627190G>A, NM_178124.6:c.14G>A, NM_178124.5:c.14G>A, NM_178124.4:c.14G>A, XM_005262349.5:c.213G>A, XM_005262349.4:c.14G>A, XM_005262349.3:c.14G>A, XM_005262349.2:c.14G>A, XM_005262349.1:c.14G>A, NM_001171909.4:c.14G>A, NM_001171909.3:c.14G>A, NM_001171909.2:c.14G>A, NM_001171909.1:c.14G>A, NM_001171907.3:c.14G>A, NM_001171907.2:c.14G>A, NM_001171907.1:c.14G>A, NM_001171908.3:c.14G>A, NM_001171908.2:c.14G>A, NM_001171908.1:c.14G>A, NM_001324276.2:c.14G>A, NM_001324276.1:c.14G>A, NM_001324279.2:c.14G>A, NM_001324279.1:c.14G>A, NM_001324280.2:c.14G>A, NM_001324280.1:c.14G>A, NM_001324277.2:c.14G>A, NM_001324277.1:c.14G>A, NM_001324278.2:c.14G>A, NM_001324278.1:c.14G>A, NM_001324275.2:c.14G>A, NM_001324275.1:c.14G>A, NM_001324274.2:c.14G>A, NM_001324274.1:c.14G>A, XM_047442629.1:c.312G>A, XM_047442630.1:c.282G>A, NP_835225.2:p.Cys5Tyr, NP_001165380.1:p.Cys5Tyr, NP_001165378.1:p.Cys5Tyr, NP_001165379.1:p.Cys5Tyr, NP_001311205.1:p.Cys5Tyr, NP_001311208.1:p.Cys5Tyr, NP_001311209.1:p.Cys5Tyr, NP_001311206.1:p.Cys5Tyr, NP_001311207.1:p.Cys5Tyr, NP_001311204.1:p.Cys5Tyr, NP_001311203.1:p.Cys5Tyr

Select item 14148205529.

rs1414820552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149546918 (GRCh38)
X:148628464 (GRCh37)
Canonical SPDI:: NC_000023.11:149546917:G:A
Gene:: EOLA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.149546918G>A, NW_004070890.2:g.5071316G>A, NC_000023.10:g.148628464G>A, NM_178124.6:c.433G>A, NM_178124.5:c.433G>A, NM_178124.4:c.433G>A, XM_005262349.5:c.*170G>A, XM_005262349.4:c.433G>A, XM_005262349.3:c.433G>A, XM_005262349.2:c.433G>A, XM_005262349.1:c.433G>A, NM_001171907.3:c.433G>A, NM_001171907.2:c.433G>A, NM_001171907.1:c.433G>A, NM_001171908.3:c.433G>A, NM_001171908.2:c.433G>A, NM_001171908.1:c.433G>A, NM_001324280.2:c.433G>A, NM_001324280.1:c.433G>A, NM_001324277.2:c.433G>A, NM_001324277.1:c.433G>A, NM_001324278.2:c.433G>A, NM_001324278.1:c.433G>A, NM_001324275.2:c.433G>A, NM_001324275.1:c.433G>A, NM_001324274.2:c.433G>A, NM_001324274.1:c.433G>A, XM_047442629.1:c.*170G>A, XM_047442630.1:c.*170G>A, NP_835225.2:p.Val145Ile, NP_001165378.1:p.Val145Ile, NP_001165379.1:p.Val145Ile, NP_001311209.1:p.Val145Ile, NP_001311206.1:p.Val145Ile, NP_001311207.1:p.Val145Ile, NP_001311204.1:p.Val145Ile, NP_001311203.1:p.Val145Ile

Select item 141431168110.

rs1414311681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149545778 (GRCh38)
X:148627324 (GRCh37)
Canonical SPDI:: NC_000023.11:149545777:G:A
Gene:: EOLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/2 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.149545778G>A, NW_004070890.2:g.5070176G>A, NC_000023.10:g.148627324G>A, NM_178124.6:c.148G>A, NM_178124.5:c.148G>A, NM_178124.4:c.148G>A, XM_005262349.5:c.347G>A, XM_005262349.4:c.148G>A, XM_005262349.3:c.148G>A, XM_005262349.2:c.148G>A, XM_005262349.1:c.148G>A, NM_001171909.4:c.148G>A, NM_001171909.3:c.148G>A, NM_001171909.2:c.148G>A, NM_001171909.1:c.148G>A, NM_001171907.3:c.148G>A, NM_001171907.2:c.148G>A, NM_001171907.1:c.148G>A, NM_001171908.3:c.148G>A, NM_001171908.2:c.148G>A, NM_001171908.1:c.148G>A, NM_001324276.2:c.148G>A, NM_001324276.1:c.148G>A, NM_001324279.2:c.148G>A, NM_001324279.1:c.148G>A, NM_001324280.2:c.148G>A, NM_001324280.1:c.148G>A, NM_001324277.2:c.148G>A, NM_001324277.1:c.148G>A, NM_001324278.2:c.148G>A, NM_001324278.1:c.148G>A, NM_001324275.2:c.148G>A, NM_001324275.1:c.148G>A, NM_001324274.2:c.148G>A, NM_001324274.1:c.148G>A, XM_047442629.1:c.446G>A, XM_047442630.1:c.416G>A, NP_835225.2:p.Gly50Ser, XP_005262406.3:p.Arg116Lys, NP_001165380.1:p.Gly50Ser, NP_001165378.1:p.Gly50Ser, NP_001165379.1:p.Gly50Ser, NP_001311205.1:p.Gly50Ser, NP_001311208.1:p.Gly50Ser, NP_001311209.1:p.Gly50Ser, NP_001311206.1:p.Gly50Ser, NP_001311207.1:p.Gly50Ser, NP_001311204.1:p.Gly50Ser, NP_001311203.1:p.Gly50Ser, XP_047298585.1:p.Arg149Lys, XP_047298586.1:p.Arg139Lys

Select item 141085027811.

rs1410850278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:149545645 (GRCh38)
X:148627191 (GRCh37)
Canonical SPDI:: NC_000023.11:149545644:C:T
Gene:: EOLA1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.149545645C>T, NW_004070890.2:g.5070043C>T, NC_000023.10:g.148627191C>T, NM_178124.6:c.15C>T, NM_178124.5:c.15C>T, NM_178124.4:c.15C>T, XM_005262349.5:c.214C>T, XM_005262349.4:c.15C>T, XM_005262349.3:c.15C>T, XM_005262349.2:c.15C>T, XM_005262349.1:c.15C>T, NM_001171909.4:c.15C>T, NM_001171909.3:c.15C>T, NM_001171909.2:c.15C>T, NM_001171909.1:c.15C>T, NM_001171907.3:c.15C>T, NM_001171907.2:c.15C>T, NM_001171907.1:c.15C>T, NM_001171908.3:c.15C>T, NM_001171908.2:c.15C>T, NM_001171908.1:c.15C>T, NM_001324276.2:c.15C>T, NM_001324276.1:c.15C>T, NM_001324279.2:c.15C>T, NM_001324279.1:c.15C>T, NM_001324280.2:c.15C>T, NM_001324280.1:c.15C>T, NM_001324277.2:c.15C>T, NM_001324277.1:c.15C>T, NM_001324278.2:c.15C>T, NM_001324278.1:c.15C>T, NM_001324275.2:c.15C>T, NM_001324275.1:c.15C>T, NM_001324274.2:c.15C>T, NM_001324274.1:c.15C>T, XM_047442629.1:c.313C>T, XM_047442630.1:c.283C>T, XP_005262406.3:p.Pro72Ser, XP_047298585.1:p.Pro105Ser, XP_047298586.1:p.Pro95Ser

Select item 139609033912.

rs1396090339 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149546871 (GRCh38)
X:148628417 (GRCh37)
Canonical SPDI:: NC_000023.11:149546870:G:A
Gene:: EOLA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.149546871G>A, NW_004070890.2:g.5071269G>A, NC_000023.10:g.148628417G>A, NM_178124.6:c.386G>A, NM_178124.5:c.386G>A, NM_178124.4:c.386G>A, XM_005262349.5:c.*123G>A, XM_005262349.4:c.386G>A, XM_005262349.3:c.386G>A, XM_005262349.2:c.386G>A, XM_005262349.1:c.386G>A, NM_001171909.4:c.386G>A, NM_001171909.3:c.386G>A, NM_001171909.2:c.386G>A, NM_001171909.1:c.386G>A, NM_001171907.3:c.386G>A, NM_001171907.2:c.386G>A, NM_001171907.1:c.386G>A, NM_001171908.3:c.386G>A, NM_001171908.2:c.386G>A, NM_001171908.1:c.386G>A, NM_001324276.2:c.386G>A, NM_001324276.1:c.386G>A, NM_001324279.2:c.386G>A, NM_001324279.1:c.386G>A, NM_001324280.2:c.386G>A, NM_001324280.1:c.386G>A, NM_001324277.2:c.386G>A, NM_001324277.1:c.386G>A, NM_001324278.2:c.386G>A, NM_001324278.1:c.386G>A, NM_001324275.2:c.386G>A, NM_001324275.1:c.386G>A, NM_001324274.2:c.386G>A, NM_001324274.1:c.386G>A, XM_047442629.1:c.*123G>A, XM_047442630.1:c.*123G>A, NP_835225.2:p.Trp129Ter, NP_001165380.1:p.Trp129Ter, NP_001165378.1:p.Trp129Ter, NP_001165379.1:p.Trp129Ter, NP_001311205.1:p.Trp129Ter, NP_001311208.1:p.Trp129Ter, NP_001311209.1:p.Trp129Ter, NP_001311206.1:p.Trp129Ter, NP_001311207.1:p.Trp129Ter, NP_001311204.1:p.Trp129Ter, NP_001311203.1:p.Trp129Ter

Select item 138485192713.

rs1384851927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149545740 (GRCh38)
X:148627286 (GRCh37)
Canonical SPDI:: NC_000023.11:149545739:G:A
Gene:: EOLA1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.149545740G>A, NW_004070890.2:g.5070138G>A, NC_000023.10:g.148627286G>A, NM_178124.6:c.110G>A, NM_178124.5:c.110G>A, NM_178124.4:c.110G>A, XM_005262349.5:c.309G>A, XM_005262349.4:c.110G>A, XM_005262349.3:c.110G>A, XM_005262349.2:c.110G>A, XM_005262349.1:c.110G>A, NM_001171909.4:c.110G>A, NM_001171909.3:c.110G>A, NM_001171909.2:c.110G>A, NM_001171909.1:c.110G>A, NM_001171907.3:c.110G>A, NM_001171907.2:c.110G>A, NM_001171907.1:c.110G>A, NM_001171908.3:c.110G>A, NM_001171908.2:c.110G>A, NM_001171908.1:c.110G>A, NM_001324276.2:c.110G>A, NM_001324276.1:c.110G>A, NM_001324279.2:c.110G>A, NM_001324279.1:c.110G>A, NM_001324280.2:c.110G>A, NM_001324280.1:c.110G>A, NM_001324277.2:c.110G>A, NM_001324277.1:c.110G>A, NM_001324278.2:c.110G>A, NM_001324278.1:c.110G>A, NM_001324275.2:c.110G>A, NM_001324275.1:c.110G>A, NM_001324274.2:c.110G>A, NM_001324274.1:c.110G>A, XM_047442629.1:c.408G>A, XM_047442630.1:c.378G>A, NP_835225.2:p.Cys37Tyr, NP_001165380.1:p.Cys37Tyr, NP_001165378.1:p.Cys37Tyr, NP_001165379.1:p.Cys37Tyr, NP_001311205.1:p.Cys37Tyr, NP_001311208.1:p.Cys37Tyr, NP_001311209.1:p.Cys37Tyr, NP_001311206.1:p.Cys37Tyr, NP_001311207.1:p.Cys37Tyr, NP_001311204.1:p.Cys37Tyr, NP_001311203.1:p.Cys37Tyr

Select item 134822466214.

rs1348224662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149546900 (GRCh38)
X:148628446 (GRCh37)
Canonical SPDI:: NC_000023.11:149546899:G:A
Gene:: EOLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.149546900G>A, NW_004070890.2:g.5071298G>A, NC_000023.10:g.148628446G>A, NM_178124.6:c.415G>A, NM_178124.5:c.415G>A, NM_178124.4:c.415G>A, XM_005262349.5:c.*152G>A, XM_005262349.4:c.415G>A, XM_005262349.3:c.415G>A, XM_005262349.2:c.415G>A, XM_005262349.1:c.415G>A, NM_001171909.4:c.415G>A, NM_001171909.3:c.415G>A, NM_001171909.2:c.415G>A, NM_001171909.1:c.415G>A, NM_001171907.3:c.415G>A, NM_001171907.2:c.415G>A, NM_001171907.1:c.415G>A, NM_001171908.3:c.415G>A, NM_001171908.2:c.415G>A, NM_001171908.1:c.415G>A, NM_001324276.2:c.415G>A, NM_001324276.1:c.415G>A, NM_001324279.2:c.415G>A, NM_001324279.1:c.415G>A, NM_001324280.2:c.415G>A, NM_001324280.1:c.415G>A, NM_001324277.2:c.415G>A, NM_001324277.1:c.415G>A, NM_001324278.2:c.415G>A, NM_001324278.1:c.415G>A, NM_001324275.2:c.415G>A, NM_001324275.1:c.415G>A, NM_001324274.2:c.415G>A, NM_001324274.1:c.415G>A, XM_047442629.1:c.*152G>A, XM_047442630.1:c.*152G>A, NP_835225.2:p.Gly139Ser, NP_001165380.1:p.Gly139Ser, NP_001165378.1:p.Gly139Ser, NP_001165379.1:p.Gly139Ser, NP_001311205.1:p.Gly139Ser, NP_001311208.1:p.Gly139Ser, NP_001311209.1:p.Gly139Ser, NP_001311206.1:p.Gly139Ser, NP_001311207.1:p.Gly139Ser, NP_001311204.1:p.Gly139Ser, NP_001311203.1:p.Gly139Ser

Select item 133033571615.

rs1330335716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149545856 (GRCh38)
X:148627402 (GRCh37)
Canonical SPDI:: NC_000023.11:149545855:G:A
Gene:: EOLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000009/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.149545856G>A, NW_004070890.2:g.5070254G>A, NC_000023.10:g.148627402G>A, NM_178124.6:c.226G>A, NM_178124.5:c.226G>A, NM_178124.4:c.226G>A, XM_005262349.5:c.425G>A, XM_005262349.4:c.226G>A, XM_005262349.3:c.226G>A, XM_005262349.2:c.226G>A, XM_005262349.1:c.226G>A, NM_001171909.4:c.226G>A, NM_001171909.3:c.226G>A, NM_001171909.2:c.226G>A, NM_001171909.1:c.226G>A, NM_001171907.3:c.226G>A, NM_001171907.2:c.226G>A, NM_001171907.1:c.226G>A, NM_001171908.3:c.226G>A, NM_001171908.2:c.226G>A, NM_001171908.1:c.226G>A, NM_001324276.2:c.226G>A, NM_001324276.1:c.226G>A, NM_001324279.2:c.226G>A, NM_001324279.1:c.226G>A, NM_001324280.2:c.226G>A, NM_001324280.1:c.226G>A, NM_001324277.2:c.226G>A, NM_001324277.1:c.226G>A, NM_001324278.2:c.226G>A, NM_001324278.1:c.226G>A, NM_001324275.2:c.226G>A, NM_001324275.1:c.226G>A, NM_001324274.2:c.226G>A, NM_001324274.1:c.226G>A, XM_047442629.1:c.524G>A, XM_047442630.1:c.494G>A, NP_835225.2:p.Glu76Lys, XP_005262406.3:p.Gly142Glu, NP_001165380.1:p.Glu76Lys, NP_001165378.1:p.Glu76Lys, NP_001165379.1:p.Glu76Lys, NP_001311205.1:p.Glu76Lys, NP_001311208.1:p.Glu76Lys, NP_001311209.1:p.Glu76Lys, NP_001311206.1:p.Glu76Lys, NP_001311207.1:p.Glu76Lys, NP_001311204.1:p.Glu76Lys, NP_001311203.1:p.Glu76Lys, XP_047298585.1:p.Gly175Glu, XP_047298586.1:p.Gly165Glu

Select item 132427098116.

rs1324270981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:149545839 (GRCh38)
X:148627385 (GRCh37)
Canonical SPDI:: NC_000023.11:149545838:C:G
Gene:: EOLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000009/1 (GnomAD_exomes)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.149545839C>G, NW_004070890.2:g.5070237C>G, NC_000023.10:g.148627385C>G, NM_178124.6:c.209C>G, NM_178124.5:c.209C>G, NM_178124.4:c.209C>G, XM_005262349.5:c.408C>G, XM_005262349.4:c.209C>G, XM_005262349.3:c.209C>G, XM_005262349.2:c.209C>G, XM_005262349.1:c.209C>G, NM_001171909.4:c.209C>G, NM_001171909.3:c.209C>G, NM_001171909.2:c.209C>G, NM_001171909.1:c.209C>G, NM_001171907.3:c.209C>G, NM_001171907.2:c.209C>G, NM_001171907.1:c.209C>G, NM_001171908.3:c.209C>G, NM_001171908.2:c.209C>G, NM_001171908.1:c.209C>G, NM_001324276.2:c.209C>G, NM_001324276.1:c.209C>G, NM_001324279.2:c.209C>G, NM_001324279.1:c.209C>G, NM_001324280.2:c.209C>G, NM_001324280.1:c.209C>G, NM_001324277.2:c.209C>G, NM_001324277.1:c.209C>G, NM_001324278.2:c.209C>G, NM_001324278.1:c.209C>G, NM_001324275.2:c.209C>G, NM_001324275.1:c.209C>G, NM_001324274.2:c.209C>G, NM_001324274.1:c.209C>G, XM_047442629.1:c.507C>G, XM_047442630.1:c.477C>G, NP_835225.2:p.Ala70Gly, NP_001165380.1:p.Ala70Gly, NP_001165378.1:p.Ala70Gly, NP_001165379.1:p.Ala70Gly, NP_001311205.1:p.Ala70Gly, NP_001311208.1:p.Ala70Gly, NP_001311209.1:p.Ala70Gly, NP_001311206.1:p.Ala70Gly, NP_001311207.1:p.Ala70Gly, NP_001311204.1:p.Ala70Gly, NP_001311203.1:p.Ala70Gly

Select item 131943861817.

rs1319438618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:149546799 (GRCh38)
X:148628345 (GRCh37)
Canonical SPDI:: NC_000023.11:149546798:T:C
Gene:: EOLA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.149546799T>C, NW_004070890.2:g.5071197T>C, NC_000023.10:g.148628345T>C, NM_178124.6:c.314T>C, NM_178124.5:c.314T>C, NM_178124.4:c.314T>C, XM_005262349.5:c.*51T>C, XM_005262349.4:c.314T>C, XM_005262349.3:c.314T>C, XM_005262349.2:c.314T>C, XM_005262349.1:c.314T>C, NM_001171909.4:c.314T>C, NM_001171909.3:c.314T>C, NM_001171909.2:c.314T>C, NM_001171909.1:c.314T>C, NM_001171907.3:c.314T>C, NM_001171907.2:c.314T>C, NM_001171907.1:c.314T>C, NM_001171908.3:c.314T>C, NM_001171908.2:c.314T>C, NM_001171908.1:c.314T>C, NM_001324276.2:c.314T>C, NM_001324276.1:c.314T>C, NM_001324279.2:c.314T>C, NM_001324279.1:c.314T>C, NM_001324280.2:c.314T>C, NM_001324280.1:c.314T>C, NM_001324277.2:c.314T>C, NM_001324277.1:c.314T>C, NM_001324278.2:c.314T>C, NM_001324278.1:c.314T>C, NM_001324275.2:c.314T>C, NM_001324275.1:c.314T>C, NM_001324274.2:c.314T>C, NM_001324274.1:c.314T>C, XM_047442629.1:c.*51T>C, XM_047442630.1:c.*51T>C, NP_835225.2:p.Val105Ala, NP_001165380.1:p.Val105Ala, NP_001165378.1:p.Val105Ala, NP_001165379.1:p.Val105Ala, NP_001311205.1:p.Val105Ala, NP_001311208.1:p.Val105Ala, NP_001311209.1:p.Val105Ala, NP_001311206.1:p.Val105Ala, NP_001311207.1:p.Val105Ala, NP_001311204.1:p.Val105Ala, NP_001311203.1:p.Val105Ala

Select item 131131246018.

rs1311312460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:149546801 (GRCh38)
X:148628347 (GRCh37)
Canonical SPDI:: NC_000023.11:149546800:G:C,NC_000023.11:149546800:G:T
Gene:: EOLA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.149546801G>C, NC_000023.11:g.149546801G>T, NW_004070890.2:g.5071199G>C, NW_004070890.2:g.5071199G>T, NC_000023.10:g.148628347G>C, NC_000023.10:g.148628347G>T, NM_178124.6:c.316G>C, NM_178124.6:c.316G>T, NM_178124.5:c.316G>C, NM_178124.5:c.316G>T, NM_178124.4:c.316G>C, NM_178124.4:c.316G>T, XM_005262349.5:c.*53G>C, XM_005262349.5:c.*53G>T, XM_005262349.4:c.316G>C, XM_005262349.4:c.316G>T, XM_005262349.3:c.316G>C, XM_005262349.3:c.316G>T, XM_005262349.2:c.316G>C, XM_005262349.2:c.316G>T, XM_005262349.1:c.316G>C, XM_005262349.1:c.316G>T, NM_001171909.4:c.316G>C, NM_001171909.4:c.316G>T, NM_001171909.3:c.316G>C, NM_001171909.3:c.316G>T, NM_001171909.2:c.316G>C, NM_001171909.2:c.316G>T, NM_001171909.1:c.316G>C, NM_001171909.1:c.316G>T, NM_001171907.3:c.316G>C, NM_001171907.3:c.316G>T, NM_001171907.2:c.316G>C, NM_001171907.2:c.316G>T, NM_001171907.1:c.316G>C, NM_001171907.1:c.316G>T, NM_001171908.3:c.316G>C, NM_001171908.3:c.316G>T, NM_001171908.2:c.316G>C, NM_001171908.2:c.316G>T, NM_001171908.1:c.316G>C, NM_001171908.1:c.316G>T, NM_001324276.2:c.316G>C, NM_001324276.2:c.316G>T, NM_001324276.1:c.316G>C, NM_001324276.1:c.316G>T, NM_001324279.2:c.316G>C, NM_001324279.2:c.316G>T, NM_001324279.1:c.316G>C, NM_001324279.1:c.316G>T, NM_001324280.2:c.316G>C, NM_001324280.2:c.316G>T, NM_001324280.1:c.316G>C, NM_001324280.1:c.316G>T, NM_001324277.2:c.316G>C, NM_001324277.2:c.316G>T, NM_001324277.1:c.316G>C, NM_001324277.1:c.316G>T, NM_001324278.2:c.316G>C, NM_001324278.2:c.316G>T, NM_001324278.1:c.316G>C, NM_001324278.1:c.316G>T, NM_001324275.2:c.316G>C, NM_001324275.2:c.316G>T, NM_001324275.1:c.316G>C, NM_001324275.1:c.316G>T, NM_001324274.2:c.316G>C, NM_001324274.2:c.316G>T, NM_001324274.1:c.316G>C, NM_001324274.1:c.316G>T, XM_047442629.1:c.*53G>C, XM_047442629.1:c.*53G>T, XM_047442630.1:c.*53G>C, XM_047442630.1:c.*53G>T, NP_835225.2:p.Glu106Gln, NP_835225.2:p.Glu106Ter, NP_001165380.1:p.Glu106Gln, NP_001165380.1:p.Glu106Ter, NP_001165378.1:p.Glu106Gln, NP_001165378.1:p.Glu106Ter, NP_001165379.1:p.Glu106Gln, NP_001165379.1:p.Glu106Ter, NP_001311205.1:p.Glu106Gln, NP_001311205.1:p.Glu106Ter, NP_001311208.1:p.Glu106Gln, NP_001311208.1:p.Glu106Ter, NP_001311209.1:p.Glu106Gln, NP_001311209.1:p.Glu106Ter, NP_001311206.1:p.Glu106Gln, NP_001311206.1:p.Glu106Ter, NP_001311207.1:p.Glu106Gln, NP_001311207.1:p.Glu106Ter, NP_001311204.1:p.Glu106Gln, NP_001311204.1:p.Glu106Ter, NP_001311203.1:p.Glu106Gln, NP_001311203.1:p.Glu106Ter

Select item 128509433419.

rs1285094334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:149545847 (GRCh38)
X:148627393 (GRCh37)
Canonical SPDI:: NC_000023.11:149545846:A:G
Gene:: EOLA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.149545847A>G, NW_004070890.2:g.5070245A>G, NC_000023.10:g.148627393A>G, NM_178124.6:c.217A>G, NM_178124.5:c.217A>G, NM_178124.4:c.217A>G, XM_005262349.5:c.416A>G, XM_005262349.4:c.217A>G, XM_005262349.3:c.217A>G, XM_005262349.2:c.217A>G, XM_005262349.1:c.217A>G, NM_001171909.4:c.217A>G, NM_001171909.3:c.217A>G, NM_001171909.2:c.217A>G, NM_001171909.1:c.217A>G, NM_001171907.3:c.217A>G, NM_001171907.2:c.217A>G, NM_001171907.1:c.217A>G, NM_001171908.3:c.217A>G, NM_001171908.2:c.217A>G, NM_001171908.1:c.217A>G, NM_001324276.2:c.217A>G, NM_001324276.1:c.217A>G, NM_001324279.2:c.217A>G, NM_001324279.1:c.217A>G, NM_001324280.2:c.217A>G, NM_001324280.1:c.217A>G, NM_001324277.2:c.217A>G, NM_001324277.1:c.217A>G, NM_001324278.2:c.217A>G, NM_001324278.1:c.217A>G, NM_001324275.2:c.217A>G, NM_001324275.1:c.217A>G, NM_001324274.2:c.217A>G, NM_001324274.1:c.217A>G, XM_047442629.1:c.515A>G, XM_047442630.1:c.485A>G, NP_835225.2:p.Arg73Gly, XP_005262406.3:p.Gln139Arg, NP_001165380.1:p.Arg73Gly, NP_001165378.1:p.Arg73Gly, NP_001165379.1:p.Arg73Gly, NP_001311205.1:p.Arg73Gly, NP_001311208.1:p.Arg73Gly, NP_001311209.1:p.Arg73Gly, NP_001311206.1:p.Arg73Gly, NP_001311207.1:p.Arg73Gly, NP_001311204.1:p.Arg73Gly, NP_001311203.1:p.Arg73Gly, XP_047298585.1:p.Gln172Arg, XP_047298586.1:p.Gln162Arg

Select item 126844816720.

rs1268448167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:149546932 (GRCh38)
X:148628478 (GRCh37)
Canonical SPDI:: NC_000023.11:149546931:G:A
Gene:: EOLA1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.149546932G>A, NW_004070890.2:g.5071330G>A, NC_000023.10:g.148628478G>A, NM_178124.6:c.447G>A, NM_178124.5:c.447G>A, NM_178124.4:c.447G>A, XM_005262349.5:c.*184G>A, XM_005262349.4:c.447G>A, XM_005262349.3:c.447G>A, XM_005262349.2:c.447G>A, XM_005262349.1:c.447G>A, NM_001171907.3:c.447G>A, NM_001171907.2:c.447G>A, NM_001171907.1:c.447G>A, NM_001171908.3:c.447G>A, NM_001171908.2:c.447G>A, NM_001171908.1:c.447G>A, NM_001324280.2:c.447G>A, NM_001324280.1:c.447G>A, NM_001324277.2:c.447G>A, NM_001324277.1:c.447G>A, NM_001324278.2:c.447G>A, NM_001324278.1:c.447G>A, NM_001324275.2:c.447G>A, NM_001324275.1:c.447G>A, NM_001324274.2:c.447G>A, NM_001324274.1:c.447G>A, XM_047442629.1:c.*184G>A, XM_047442630.1:c.*184G>A

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