SNP Links for Protein (Select 1034609494) - SNP

Links from Protein

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Select item 14888279161.

rs1488827916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:8256649 (GRCh38)
19:8321533 (GRCh37)
Canonical SPDI:: NC_000019.10:8256648:T:C
Gene:: CERS4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8256649T>C, NC_000019.9:g.8321533T>C, XM_011528291.3:c.551T>C, XM_011528291.2:c.551T>C, XM_011528291.1:c.551T>C, XM_011528290.3:c.551T>C, XM_011528290.2:c.551T>C, XM_011528290.1:c.551T>C, NM_024552.3:c.551T>C, NM_024552.2:c.551T>C, XM_017027304.2:c.551T>C, XM_017027304.1:c.551T>C, XM_017027305.2:c.551T>C, XM_017027305.1:c.551T>C, XM_047439434.1:c.551T>C, XM_047439436.1:c.551T>C, XM_047439437.1:c.551T>C, XM_047439433.1:c.761T>C, XM_047439435.1:c.551T>C, XM_047439439.1:c.-48T>C, XM_047439438.1:c.551T>C, XP_011526593.1:p.Leu184Pro, XP_011526592.1:p.Leu184Pro, NP_078828.2:p.Leu184Pro, XP_016882793.1:p.Leu184Pro, XP_016882794.1:p.Leu184Pro, XP_047295390.1:p.Leu184Pro, XP_047295392.1:p.Leu184Pro, XP_047295393.1:p.Leu184Pro, XP_047295389.1:p.Leu254Pro, XP_047295391.1:p.Leu184Pro, XP_047295394.1:p.Leu184Pro

Select item 14879208312.

rs1487920831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:8262046 (GRCh38)
19:8326930 (GRCh37)
Canonical SPDI:: NC_000019.10:8262045:C:G,NC_000019.10:8262045:C:T
Gene:: CERS4 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.8262046C>G, NC_000019.10:g.8262046C>T, NC_000019.9:g.8326930C>G, NC_000019.9:g.8326930C>T, XM_011528291.3:c.1122C>G, XM_011528291.3:c.1122C>T, XM_011528291.2:c.1122C>G, XM_011528291.2:c.1122C>T, XM_011528291.1:c.1122C>G, XM_011528291.1:c.1122C>T, XM_011528290.3:c.1122C>G, XM_011528290.3:c.1122C>T, XM_011528290.2:c.1122C>G, XM_011528290.2:c.1122C>T, XM_011528290.1:c.1122C>G, XM_011528290.1:c.1122C>T, NM_024552.3:c.1122C>G, NM_024552.3:c.1122C>T, NM_024552.2:c.1122C>G, NM_024552.2:c.1122C>T, XM_017027304.2:c.1122C>G, XM_017027304.2:c.1122C>T, XM_017027304.1:c.1122C>G, XM_017027304.1:c.1122C>T, XM_017027305.2:c.1122C>G, XM_017027305.2:c.1122C>T, XM_017027305.1:c.1122C>G, XM_017027305.1:c.1122C>T, XM_047439434.1:c.1122C>G, XM_047439434.1:c.1122C>T, XM_047439436.1:c.1122C>G, XM_047439436.1:c.1122C>T, XM_047439437.1:c.1122C>G, XM_047439437.1:c.1122C>T, XM_047439433.1:c.1332C>G, XM_047439433.1:c.1332C>T, XM_047439435.1:c.1122C>G, XM_047439435.1:c.1122C>T, XM_047439439.1:c.582C>G, XM_047439439.1:c.582C>T

Select item 14869313633.

rs1486931363 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:8261802 (GRCh38)
19:8326686 (GRCh37)
Canonical SPDI:: NC_000019.10:8261801:CC:C
Gene:: CERS4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8261803del, NC_000019.9:g.8326687del, XM_011528291.3:c.964del, XM_011528291.2:c.964del, XM_011528291.1:c.964del, XM_011528290.3:c.964del, XM_011528290.2:c.964del, XM_011528290.1:c.964del, NM_024552.3:c.964del, NM_024552.2:c.964del, XM_017027304.2:c.964del, XM_017027304.1:c.964del, XM_017027305.2:c.964del, XM_017027305.1:c.964del, XM_047439434.1:c.964del, XM_047439436.1:c.964del, XM_047439437.1:c.964del, XM_047439433.1:c.1174del, XM_047439435.1:c.964del, XM_047439439.1:c.424del, XP_011526593.1:p.Leu322fs, XP_011526592.1:p.Leu322fs, NP_078828.2:p.Leu322fs, XP_016882793.1:p.Leu322fs, XP_016882794.1:p.Leu322fs, XP_047295390.1:p.Leu322fs, XP_047295392.1:p.Leu322fs, XP_047295393.1:p.Leu322fs, XP_047295389.1:p.Leu392fs, XP_047295391.1:p.Leu322fs, XP_047295395.1:p.Leu142fs

Select item 14846527654.

rs1484652765 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8257965 (GRCh38)
19:8322849 (GRCh37)
Canonical SPDI:: NC_000019.10:8257964:A:G
Gene:: CERS4 (Varview)
Functional Consequence:: synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8257965A>G, NC_000019.9:g.8322849A>G, XM_011528291.3:c.828A>G, XM_011528291.2:c.828A>G, XM_011528291.1:c.828A>G, XM_011528290.3:c.828A>G, XM_011528290.2:c.828A>G, XM_011528290.1:c.828A>G, NM_024552.3:c.828A>G, NM_024552.2:c.828A>G, XM_017027304.2:c.828A>G, XM_017027304.1:c.828A>G, XM_017027305.2:c.828A>G, XM_017027305.1:c.828A>G, XM_047439434.1:c.828A>G, XM_047439436.1:c.828A>G, XM_047439437.1:c.828A>G, XM_047439433.1:c.1038A>G, XM_047439435.1:c.828A>G, XM_047439439.1:c.288A>G, XM_047439438.1:c.*100A>G

Select item 14823418875.

rs1482341887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:8262104 (GRCh38)
19:8326988 (GRCh37)
Canonical SPDI:: NC_000019.10:8262103:A:C
Gene:: CERS4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000064/7 (GnomAD_exomes)
C=0.000121/17 (GnomAD)
C=0.000121/32 (TOPMED)
HGVS:: NC_000019.10:g.8262104A>C, NC_000019.9:g.8326988A>C, XM_011528291.3:c.1180A>C, XM_011528291.2:c.1180A>C, XM_011528291.1:c.1180A>C, XM_011528290.3:c.1180A>C, XM_011528290.2:c.1180A>C, XM_011528290.1:c.1180A>C, NM_024552.3:c.1180A>C, NM_024552.2:c.1180A>C, XM_017027304.2:c.1180A>C, XM_017027304.1:c.1180A>C, XM_017027305.2:c.1180A>C, XM_017027305.1:c.1180A>C, XM_047439434.1:c.1180A>C, XM_047439436.1:c.1180A>C, XM_047439437.1:c.1180A>C, XM_047439433.1:c.1390A>C, XM_047439435.1:c.1180A>C, XM_047439439.1:c.640A>C, XP_011526593.1:p.Thr394Pro, XP_011526592.1:p.Thr394Pro, NP_078828.2:p.Thr394Pro, XP_016882793.1:p.Thr394Pro, XP_016882794.1:p.Thr394Pro, XP_047295390.1:p.Thr394Pro, XP_047295392.1:p.Thr394Pro, XP_047295393.1:p.Thr394Pro, XP_047295389.1:p.Thr464Pro, XP_047295391.1:p.Thr394Pro, XP_047295395.1:p.Thr214Pro

Select item 14819608186.

rs1481960818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:8256628 (GRCh38)
19:8321512 (GRCh37)
Canonical SPDI:: NC_000019.10:8256627:C:G,NC_000019.10:8256627:C:T
Gene:: CERS4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.8256628C>G, NC_000019.10:g.8256628C>T, NC_000019.9:g.8321512C>G, NC_000019.9:g.8321512C>T, XM_011528291.3:c.530C>G, XM_011528291.3:c.530C>T, XM_011528291.2:c.530C>G, XM_011528291.2:c.530C>T, XM_011528291.1:c.530C>G, XM_011528291.1:c.530C>T, XM_011528290.3:c.530C>G, XM_011528290.3:c.530C>T, XM_011528290.2:c.530C>G, XM_011528290.2:c.530C>T, XM_011528290.1:c.530C>G, XM_011528290.1:c.530C>T, NM_024552.3:c.530C>G, NM_024552.3:c.530C>T, NM_024552.2:c.530C>G, NM_024552.2:c.530C>T, XM_017027304.2:c.530C>G, XM_017027304.2:c.530C>T, XM_017027304.1:c.530C>G, XM_017027304.1:c.530C>T, XM_017027305.2:c.530C>G, XM_017027305.2:c.530C>T, XM_017027305.1:c.530C>G, XM_017027305.1:c.530C>T, XM_047439434.1:c.530C>G, XM_047439434.1:c.530C>T, XM_047439436.1:c.530C>G, XM_047439436.1:c.530C>T, XM_047439437.1:c.530C>G, XM_047439437.1:c.530C>T, XM_047439433.1:c.740C>G, XM_047439433.1:c.740C>T, XM_047439435.1:c.530C>G, XM_047439435.1:c.530C>T, XM_047439439.1:c.-69C>G, XM_047439439.1:c.-69C>T, XM_047439438.1:c.530C>G, XM_047439438.1:c.530C>T, XP_011526593.1:p.Pro177Arg, XP_011526593.1:p.Pro177Leu, XP_011526592.1:p.Pro177Arg, XP_011526592.1:p.Pro177Leu, NP_078828.2:p.Pro177Arg, NP_078828.2:p.Pro177Leu, XP_016882793.1:p.Pro177Arg, XP_016882793.1:p.Pro177Leu, XP_016882794.1:p.Pro177Arg, XP_016882794.1:p.Pro177Leu, XP_047295390.1:p.Pro177Arg, XP_047295390.1:p.Pro177Leu, XP_047295392.1:p.Pro177Arg, XP_047295392.1:p.Pro177Leu, XP_047295393.1:p.Pro177Arg, XP_047295393.1:p.Pro177Leu, XP_047295389.1:p.Pro247Arg, XP_047295389.1:p.Pro247Leu, XP_047295391.1:p.Pro177Arg, XP_047295391.1:p.Pro177Leu, XP_047295394.1:p.Pro177Arg, XP_047295394.1:p.Pro177Leu

Select item 14811009937.

rs1481100993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8256278 (GRCh38)
19:8321162 (GRCh37)
Canonical SPDI:: NC_000019.10:8256277:C:T
Gene:: CERS4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8256278C>T, NC_000019.9:g.8321162C>T, XM_011528291.3:c.511C>T, XM_011528291.2:c.511C>T, XM_011528291.1:c.511C>T, XM_011528290.3:c.511C>T, XM_011528290.2:c.511C>T, XM_011528290.1:c.511C>T, NM_024552.3:c.511C>T, NM_024552.2:c.511C>T, XM_017027304.2:c.511C>T, XM_017027304.1:c.511C>T, XM_017027305.2:c.511C>T, XM_017027305.1:c.511C>T, XM_047439434.1:c.511C>T, XM_047439436.1:c.511C>T, XM_047439437.1:c.511C>T, XM_047439433.1:c.721C>T, XM_047439435.1:c.511C>T, XM_047439439.1:c.-88C>T, XM_047439438.1:c.511C>T, XP_011526593.1:p.Pro171Ser, XP_011526592.1:p.Pro171Ser, NP_078828.2:p.Pro171Ser, XP_016882793.1:p.Pro171Ser, XP_016882794.1:p.Pro171Ser, XP_047295390.1:p.Pro171Ser, XP_047295392.1:p.Pro171Ser, XP_047295393.1:p.Pro171Ser, XP_047295389.1:p.Pro241Ser, XP_047295391.1:p.Pro171Ser, XP_047295394.1:p.Pro171Ser

Select item 14791130718.

rs1479113071 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8257036 (GRCh38)
19:8321920 (GRCh37)
Canonical SPDI:: NC_000019.10:8257035:C:T
Gene:: CERS4 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.8257036C>T, NC_000019.9:g.8321920C>T, XM_011528291.3:c.700C>T, XM_011528291.2:c.700C>T, XM_011528291.1:c.700C>T, XM_011528290.3:c.700C>T, XM_011528290.2:c.700C>T, XM_011528290.1:c.700C>T, NM_024552.3:c.700C>T, NM_024552.2:c.700C>T, XM_017027304.2:c.700C>T, XM_017027304.1:c.700C>T, XM_017027305.2:c.700C>T, XM_017027305.1:c.700C>T, XM_047439434.1:c.700C>T, XM_047439436.1:c.700C>T, XM_047439437.1:c.700C>T, XM_047439433.1:c.910C>T, XM_047439435.1:c.700C>T, XM_047439439.1:c.160C>T, XM_047439438.1:c.758C>T, XP_047295394.1:p.Ser253Phe

Select item 14788141879.

rs1478814187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8255866 (GRCh38)
19:8320750 (GRCh37)
Canonical SPDI:: NC_000019.10:8255865:C:T
Gene:: CERS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8255866C>T, NC_000019.9:g.8320750C>T, XM_011528291.3:c.455C>T, XM_011528291.2:c.455C>T, XM_011528291.1:c.455C>T, XM_011528290.3:c.455C>T, XM_011528290.2:c.455C>T, XM_011528290.1:c.455C>T, NM_024552.3:c.455C>T, NM_024552.2:c.455C>T, XM_017027304.2:c.455C>T, XM_017027304.1:c.455C>T, XM_017027305.2:c.455C>T, XM_017027305.1:c.455C>T, XM_047439434.1:c.455C>T, XM_047439436.1:c.455C>T, XM_047439437.1:c.455C>T, XM_047439433.1:c.665C>T, XM_047439435.1:c.455C>T, XM_047439438.1:c.455C>T, XP_011526593.1:p.Ser152Leu, XP_011526592.1:p.Ser152Leu, NP_078828.2:p.Ser152Leu, XP_016882793.1:p.Ser152Leu, XP_016882794.1:p.Ser152Leu, XP_047295390.1:p.Ser152Leu, XP_047295392.1:p.Ser152Leu, XP_047295393.1:p.Ser152Leu, XP_047295389.1:p.Ser222Leu, XP_047295391.1:p.Ser152Leu, XP_047295394.1:p.Ser152Leu

Select item 147771606910.

rs1477716069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8255691 (GRCh38)
19:8320575 (GRCh37)
Canonical SPDI:: NC_000019.10:8255690:C:T
Gene:: CERS4 (Varview)
Functional Consequence:: stop_gained,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8255691C>T, NC_000019.9:g.8320575C>T, XM_011528291.3:c.376C>T, XM_011528291.2:c.376C>T, XM_011528291.1:c.376C>T, XM_011528290.3:c.376C>T, XM_011528290.2:c.376C>T, XM_011528290.1:c.376C>T, NM_024552.3:c.376C>T, NM_024552.2:c.376C>T, XM_017027304.2:c.376C>T, XM_017027304.1:c.376C>T, XM_017027305.2:c.376C>T, XM_017027305.1:c.376C>T, XM_047439434.1:c.376C>T, XM_047439436.1:c.376C>T, XM_047439437.1:c.376C>T, XM_047439433.1:c.586C>T, XM_047439435.1:c.376C>T, XM_047439438.1:c.376C>T, XP_011526593.1:p.Arg126Ter, XP_011526592.1:p.Arg126Ter, NP_078828.2:p.Arg126Ter, XP_016882793.1:p.Arg126Ter, XP_016882794.1:p.Arg126Ter, XP_047295390.1:p.Arg126Ter, XP_047295392.1:p.Arg126Ter, XP_047295393.1:p.Arg126Ter, XP_047295389.1:p.Arg196Ter, XP_047295391.1:p.Arg126Ter, XP_047295394.1:p.Arg126Ter

Select item 147549599111.

rs1475495991 [Homo sapiens]

Variant type:: DEL
Alleles:: CAGCTG>- [Show Flanks]
Chromosome:: 19:8255610 (GRCh38)
19:8320494 (GRCh37)
Canonical SPDI:: NC_000019.10:8255609:CAGCTG:
Gene:: CERS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_deletion,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.8255610_8255615del, NC_000019.9:g.8320494_8320499del, XM_011528291.3:c.295_300del, XM_011528291.2:c.295_300del, XM_011528291.1:c.295_300del, XM_011528290.3:c.295_300del, XM_011528290.2:c.295_300del, XM_011528290.1:c.295_300del, NM_024552.3:c.295_300del, NM_024552.2:c.295_300del, XM_017027304.2:c.295_300del, XM_017027304.1:c.295_300del, XM_017027305.2:c.295_300del, XM_017027305.1:c.295_300del, XM_047439434.1:c.295_300del, XM_047439436.1:c.295_300del, XM_047439437.1:c.295_300del, XM_047439433.1:c.505_510del, XM_047439435.1:c.295_300del, XM_047439438.1:c.295_300del, XP_011526593.1:p.Gln99_Leu100del, XP_011526592.1:p.Gln99_Leu100del, NP_078828.2:p.Gln99_Leu100del, XP_016882793.1:p.Gln99_Leu100del, XP_016882794.1:p.Gln99_Leu100del, XP_047295390.1:p.Gln99_Leu100del, XP_047295392.1:p.Gln99_Leu100del, XP_047295393.1:p.Gln99_Leu100del, XP_047295389.1:p.Gln169_Leu170del, XP_047295391.1:p.Gln99_Leu100del, XP_047295394.1:p.Gln99_Leu100del

Select item 146953745212.

rs1469537452 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:8257070 (GRCh38)
19:8321954 (GRCh37)
Canonical SPDI:: NC_000019.10:8257069:T:A
Gene:: CERS4 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.8257070T>A, NC_000019.9:g.8321954T>A, XM_011528291.3:c.734T>A, XM_011528291.2:c.734T>A, XM_011528291.1:c.734T>A, XM_011528290.3:c.734T>A, XM_011528290.2:c.734T>A, XM_011528290.1:c.734T>A, NM_024552.3:c.734T>A, NM_024552.2:c.734T>A, XM_017027304.2:c.734T>A, XM_017027304.1:c.734T>A, XM_017027305.2:c.734T>A, XM_017027305.1:c.734T>A, XM_047439434.1:c.734T>A, XM_047439436.1:c.734T>A, XM_047439437.1:c.734T>A, XM_047439433.1:c.944T>A, XM_047439435.1:c.734T>A, XM_047439439.1:c.194T>A, XM_047439438.1:c.*6T>A, XP_011526593.1:p.Leu245Gln, XP_011526592.1:p.Leu245Gln, NP_078828.2:p.Leu245Gln, XP_016882793.1:p.Leu245Gln, XP_016882794.1:p.Leu245Gln, XP_047295390.1:p.Leu245Gln, XP_047295392.1:p.Leu245Gln, XP_047295393.1:p.Leu245Gln, XP_047295389.1:p.Leu315Gln, XP_047295391.1:p.Leu245Gln, XP_047295395.1:p.Leu65Gln

Select item 146729721813.

rs1467297218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:8261699 (GRCh38)
19:8326583 (GRCh37)
Canonical SPDI:: NC_000019.10:8261698:C:A
Gene:: CERS4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.8261699C>A, NC_000019.9:g.8326583C>A, XM_011528291.3:c.860C>A, XM_011528291.2:c.860C>A, XM_011528291.1:c.860C>A, XM_011528290.3:c.860C>A, XM_011528290.2:c.860C>A, XM_011528290.1:c.860C>A, NM_024552.3:c.860C>A, NM_024552.2:c.860C>A, XM_017027304.2:c.860C>A, XM_017027304.1:c.860C>A, XM_017027305.2:c.860C>A, XM_017027305.1:c.860C>A, XM_047439434.1:c.860C>A, XM_047439436.1:c.860C>A, XM_047439437.1:c.860C>A, XM_047439433.1:c.1070C>A, XM_047439435.1:c.860C>A, XM_047439439.1:c.320C>A, XP_011526593.1:p.Thr287Asn, XP_011526592.1:p.Thr287Asn, NP_078828.2:p.Thr287Asn, XP_016882793.1:p.Thr287Asn, XP_016882794.1:p.Thr287Asn, XP_047295390.1:p.Thr287Asn, XP_047295392.1:p.Thr287Asn, XP_047295393.1:p.Thr287Asn, XP_047295389.1:p.Thr357Asn, XP_047295391.1:p.Thr287Asn, XP_047295395.1:p.Thr107Asn

Select item 146152428314.

rs1461524283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGG [Show Flanks]
Chromosome:: 19:8261974 (GRCh38)
19:8326859 (GRCh37)
Canonical SPDI:: NC_000019.10:8261974:GAGGAGG:GAGGAGGAGG
Gene:: CERS4 (Varview)
Functional Consequence:: inframe_insertion,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGAGGAGG=0./0 (ALFA)
GAG=0.000004/1 (TOPMED)
GAG=0.000007/1 (GnomAD)
GAG=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.8261976AGG[3], NC_000019.9:g.8326860AGG[3], XM_011528291.3:c.1052AGG[3], XM_011528291.2:c.1052AGG[3], XM_011528291.1:c.1052AGG[3], XM_011528290.3:c.1052AGG[3], XM_011528290.2:c.1052AGG[3], XM_011528290.1:c.1052AGG[3], NM_024552.3:c.1052AGG[3], NM_024552.2:c.1052AGG[3], XM_017027304.2:c.1052AGG[3], XM_017027304.1:c.1052AGG[3], XM_017027305.2:c.1052AGG[3], XM_017027305.1:c.1052AGG[3], XM_047439434.1:c.1052AGG[3], XM_047439436.1:c.1052AGG[3], XM_047439437.1:c.1052AGG[3], XM_047439433.1:c.1262AGG[3], XM_047439435.1:c.1052AGG[3], XM_047439439.1:c.512AGG[3], XP_011526593.1:p.Glu352dup, XP_011526592.1:p.Glu352dup, NP_078828.2:p.Glu352dup, XP_016882793.1:p.Glu352dup, XP_016882794.1:p.Glu352dup, XP_047295390.1:p.Glu352dup, XP_047295392.1:p.Glu352dup, XP_047295393.1:p.Glu352dup, XP_047295389.1:p.Glu422dup, XP_047295391.1:p.Glu352dup, XP_047295395.1:p.Glu172dup

Select item 146143838315.

rs1461438383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8257938 (GRCh38)
19:8322822 (GRCh37)
Canonical SPDI:: NC_000019.10:8257937:C:T
Gene:: CERS4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8257938C>T, NC_000019.9:g.8322822C>T, XM_011528291.3:c.801C>T, XM_011528291.2:c.801C>T, XM_011528291.1:c.801C>T, XM_011528290.3:c.801C>T, XM_011528290.2:c.801C>T, XM_011528290.1:c.801C>T, NM_024552.3:c.801C>T, NM_024552.2:c.801C>T, XM_017027304.2:c.801C>T, XM_017027304.1:c.801C>T, XM_017027305.2:c.801C>T, XM_017027305.1:c.801C>T, XM_047439434.1:c.801C>T, XM_047439436.1:c.801C>T, XM_047439437.1:c.801C>T, XM_047439433.1:c.1011C>T, XM_047439435.1:c.801C>T, XM_047439439.1:c.261C>T, XM_047439438.1:c.*73C>T

Select item 146001367016.

rs1460013670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:8262002 (GRCh38)
19:8326886 (GRCh37)
Canonical SPDI:: NC_000019.10:8262001:C:G,NC_000019.10:8262001:C:T
Gene:: CERS4 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8262002C>G, NC_000019.10:g.8262002C>T, NC_000019.9:g.8326886C>G, NC_000019.9:g.8326886C>T, XM_011528291.3:c.1078C>G, XM_011528291.3:c.1078C>T, XM_011528291.2:c.1078C>G, XM_011528291.2:c.1078C>T, XM_011528291.1:c.1078C>G, XM_011528291.1:c.1078C>T, XM_011528290.3:c.1078C>G, XM_011528290.3:c.1078C>T, XM_011528290.2:c.1078C>G, XM_011528290.2:c.1078C>T, XM_011528290.1:c.1078C>G, XM_011528290.1:c.1078C>T, NM_024552.3:c.1078C>G, NM_024552.3:c.1078C>T, NM_024552.2:c.1078C>G, NM_024552.2:c.1078C>T, XM_017027304.2:c.1078C>G, XM_017027304.2:c.1078C>T, XM_017027304.1:c.1078C>G, XM_017027304.1:c.1078C>T, XM_017027305.2:c.1078C>G, XM_017027305.2:c.1078C>T, XM_017027305.1:c.1078C>G, XM_017027305.1:c.1078C>T, XM_047439434.1:c.1078C>G, XM_047439434.1:c.1078C>T, XM_047439436.1:c.1078C>G, XM_047439436.1:c.1078C>T, XM_047439437.1:c.1078C>G, XM_047439437.1:c.1078C>T, XM_047439433.1:c.1288C>G, XM_047439433.1:c.1288C>T, XM_047439435.1:c.1078C>G, XM_047439435.1:c.1078C>T, XM_047439439.1:c.538C>G, XM_047439439.1:c.538C>T, XP_011526593.1:p.Leu360Val, XP_011526592.1:p.Leu360Val, NP_078828.2:p.Leu360Val, XP_016882793.1:p.Leu360Val, XP_016882794.1:p.Leu360Val, XP_047295390.1:p.Leu360Val, XP_047295392.1:p.Leu360Val, XP_047295393.1:p.Leu360Val, XP_047295389.1:p.Leu430Val, XP_047295391.1:p.Leu360Val, XP_047295395.1:p.Leu180Val

Select item 145914647517.

rs1459146475 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 19:8262041 (GRCh38)
19:8326925 (GRCh37)
Canonical SPDI:: NC_000019.10:8262040:G:
Gene:: CERS4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.8262041del, NC_000019.9:g.8326925del, XM_011528291.3:c.1117del, XM_011528291.2:c.1117del, XM_011528291.1:c.1117del, XM_011528290.3:c.1117del, XM_011528290.2:c.1117del, XM_011528290.1:c.1117del, NM_024552.3:c.1117del, NM_024552.2:c.1117del, XM_017027304.2:c.1117del, XM_017027304.1:c.1117del, XM_017027305.2:c.1117del, XM_017027305.1:c.1117del, XM_047439434.1:c.1117del, XM_047439436.1:c.1117del, XM_047439437.1:c.1117del, XM_047439433.1:c.1327del, XM_047439435.1:c.1117del, XM_047439439.1:c.577del, XP_011526593.1:p.Ala373fs, XP_011526592.1:p.Ala373fs, NP_078828.2:p.Ala373fs, XP_016882793.1:p.Ala373fs, XP_016882794.1:p.Ala373fs, XP_047295390.1:p.Ala373fs, XP_047295392.1:p.Ala373fs, XP_047295393.1:p.Ala373fs, XP_047295389.1:p.Ala443fs, XP_047295391.1:p.Ala373fs, XP_047295395.1:p.Ala193fs

Select item 145697799418.

rs1456977994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:8251155 (GRCh38)
19:8316039 (GRCh37)
Canonical SPDI:: NC_000019.10:8251154:G:T
Gene:: CERS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8251155G>T, NC_000019.9:g.8316039G>T, XM_011528291.3:c.79G>T, XM_011528291.2:c.79G>T, XM_011528291.1:c.79G>T, XM_011528290.3:c.79G>T, XM_011528290.2:c.79G>T, XM_011528290.1:c.79G>T, NM_024552.3:c.79G>T, NM_024552.2:c.79G>T, XM_017027304.2:c.79G>T, XM_017027304.1:c.79G>T, XM_017027305.2:c.79G>T, XM_017027305.1:c.79G>T, XM_047439434.1:c.79G>T, XM_047439436.1:c.79G>T, XM_047439437.1:c.79G>T, XM_047439433.1:c.289G>T, XM_047439435.1:c.79G>T, XM_047439438.1:c.79G>T, XP_011526593.1:p.Asp27Tyr, XP_011526592.1:p.Asp27Tyr, NP_078828.2:p.Asp27Tyr, XP_016882793.1:p.Asp27Tyr, XP_016882794.1:p.Asp27Tyr, XP_047295390.1:p.Asp27Tyr, XP_047295392.1:p.Asp27Tyr, XP_047295393.1:p.Asp27Tyr, XP_047295389.1:p.Asp97Tyr, XP_047295391.1:p.Asp27Tyr, XP_047295394.1:p.Asp27Tyr

Select item 145572243419.

rs1455722434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:8262064 (GRCh38)
19:8326948 (GRCh37)
Canonical SPDI:: NC_000019.10:8262063:C:A
Gene:: CERS4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.8262064C>A, NC_000019.9:g.8326948C>A, XM_011528291.3:c.1140C>A, XM_011528291.2:c.1140C>A, XM_011528291.1:c.1140C>A, XM_011528290.3:c.1140C>A, XM_011528290.2:c.1140C>A, XM_011528290.1:c.1140C>A, NM_024552.3:c.1140C>A, NM_024552.2:c.1140C>A, XM_017027304.2:c.1140C>A, XM_017027304.1:c.1140C>A, XM_017027305.2:c.1140C>A, XM_017027305.1:c.1140C>A, XM_047439434.1:c.1140C>A, XM_047439436.1:c.1140C>A, XM_047439437.1:c.1140C>A, XM_047439433.1:c.1350C>A, XM_047439435.1:c.1140C>A, XM_047439439.1:c.600C>A, XP_011526593.1:p.Ser380Arg, XP_011526592.1:p.Ser380Arg, NP_078828.2:p.Ser380Arg, XP_016882793.1:p.Ser380Arg, XP_016882794.1:p.Ser380Arg, XP_047295390.1:p.Ser380Arg, XP_047295392.1:p.Ser380Arg, XP_047295393.1:p.Ser380Arg, XP_047295389.1:p.Ser450Arg, XP_047295391.1:p.Ser380Arg, XP_047295395.1:p.Ser200Arg

Select item 145398765520.

rs1453987655 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:8256672 (GRCh38)
19:8321556 (GRCh37)
Canonical SPDI:: NC_000019.10:8256668:CTCTC:CTC
Gene:: CERS4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8256670TC[1], NC_000019.9:g.8321554TC[1], XM_011528291.3:c.574_575del, XM_011528291.2:c.574_575del, XM_011528291.1:c.574_575del, XM_011528290.3:c.574_575del, XM_011528290.2:c.574_575del, XM_011528290.1:c.574_575del, NM_024552.3:c.574_575del, NM_024552.2:c.574_575del, XM_017027304.2:c.574_575del, XM_017027304.1:c.574_575del, XM_017027305.2:c.574_575del, XM_017027305.1:c.574_575del, XM_047439434.1:c.574_575del, XM_047439436.1:c.574_575del, XM_047439437.1:c.574_575del, XM_047439433.1:c.784_785del, XM_047439435.1:c.574_575del, XM_047439439.1:c.-27TC[1], XM_047439438.1:c.574_575del, XP_011526593.1:p.Ser192fs, XP_011526592.1:p.Ser192fs, NP_078828.2:p.Ser192fs, XP_016882793.1:p.Ser192fs, XP_016882794.1:p.Ser192fs, XP_047295390.1:p.Ser192fs, XP_047295392.1:p.Ser192fs, XP_047295393.1:p.Ser192fs, XP_047295389.1:p.Ser262fs, XP_047295391.1:p.Ser192fs, XP_047295394.1:p.Ser192fs

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