SNP Links for Protein (Select 523498694) - SNP

Links from Protein

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Select item 14896143371.

rs1489614337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:167000070 (GRCh38)
6:167413558 (GRCh37)
Canonical SPDI:: NC_000006.12:167000069:G:A,NC_000006.12:167000069:G:T
Gene:: CEP43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.167000070G>A, NC_000006.12:g.167000070G>T, NC_000006.11:g.167413558G>A, NC_000006.11:g.167413558G>T, NM_007045.4:c.113G>A, NM_007045.4:c.113G>T, NM_007045.3:c.113G>A, NM_007045.3:c.113G>T, NM_194429.3:c.113G>A, NM_194429.3:c.113G>T, NM_194429.2:c.113G>A, NM_194429.2:c.113G>T, NM_001278690.2:c.113G>A, NM_001278690.2:c.113G>T, NM_001278690.1:c.113G>A, NM_001278690.1:c.113G>T, NP_008976.1:p.Arg38Gln, NP_008976.1:p.Arg38Leu, NP_919410.1:p.Arg38Gln, NP_919410.1:p.Arg38Leu, NP_001265619.1:p.Arg38Gln, NP_001265619.1:p.Arg38Leu

Select item 14839650652.

rs1483965065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:167033913 (GRCh38)
6:167447401 (GRCh37)
Canonical SPDI:: NC_000006.12:167033912:G:A
Gene:: CEP43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.167033913G>A, NC_000006.11:g.167447401G>A, NM_007045.4:c.1067G>A, NM_007045.3:c.1067G>A, NM_194429.3:c.1007G>A, NM_194429.2:c.1007G>A, NM_001278690.2:c.926G>A, NM_001278690.1:c.926G>A, NP_008976.1:p.Gly356Asp, NP_919410.1:p.Gly336Asp, NP_001265619.1:p.Gly309Asp

Select item 14818041043.

rs1481804104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:167024819 (GRCh38)
6:167438307 (GRCh37)
Canonical SPDI:: NC_000006.12:167024818:T:A
Gene:: CEP43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.167024819T>A, NC_000006.11:g.167438307T>A, NM_007045.4:c.844T>A, NM_007045.3:c.844T>A, NM_194429.3:c.784T>A, NM_194429.2:c.784T>A, NM_001278690.2:c.703T>A, NM_001278690.1:c.703T>A, NP_008976.1:p.Ser282Thr, NP_919410.1:p.Ser262Thr, NP_001265619.1:p.Ser235Thr

Select item 14794709434.

rs1479470943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:167024857 (GRCh38)
6:167438345 (GRCh37)
Canonical SPDI:: NC_000006.12:167024856:C:G
Gene:: CEP43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.167024857C>G, NC_000006.11:g.167438345C>G, NM_007045.4:c.882C>G, NM_007045.3:c.882C>G, NM_194429.3:c.822C>G, NM_194429.2:c.822C>G, NM_001278690.2:c.741C>G, NM_001278690.1:c.741C>G, NP_008976.1:p.Ser294Arg, NP_919410.1:p.Ser274Arg, NP_001265619.1:p.Ser247Arg

Select item 14778215355.

rs1477821535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:167003767 (GRCh38)
6:167417255 (GRCh37)
Canonical SPDI:: NC_000006.12:167003766:A:C
Gene:: CEP43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.167003767A>C, NC_000006.11:g.167417255A>C, NM_007045.4:c.256A>C, NM_007045.3:c.256A>C, NM_194429.3:c.256A>C, NM_194429.2:c.256A>C, NM_001278690.2:c.256A>C, NM_001278690.1:c.256A>C, NP_008976.1:p.Asn86His, NP_919410.1:p.Asn86His, NP_001265619.1:p.Asn86His

Select item 14768630556.

rs1476863055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:167004389 (GRCh38)
6:167417877 (GRCh37)
Canonical SPDI:: NC_000006.12:167004388:A:G
Gene:: CEP43 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.167004389A>G, NC_000006.11:g.167417877A>G, NM_007045.4:c.426A>G, NM_007045.3:c.426A>G, NM_194429.3:c.426A>G, NM_194429.2:c.426A>G, NM_001278690.2:c.426A>G, NM_001278690.1:c.426A>G

Select item 14743854627.

rs1474385462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:167040085 (GRCh38)
6:167453573 (GRCh37)
Canonical SPDI:: NC_000006.12:167040084:C:G,NC_000006.12:167040084:C:T
Gene:: CEP43 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.167040085C>G, NC_000006.12:g.167040085C>T, NC_000006.11:g.167453573C>G, NC_000006.11:g.167453573C>T, NM_007045.4:c.*107C>G, NM_007045.4:c.*107C>T, NM_007045.3:c.*107C>G, NM_007045.3:c.*107C>T, NM_194429.3:c.*107C>G, NM_194429.3:c.*107C>T, NM_194429.2:c.*107C>G, NM_194429.2:c.*107C>T, NM_001278690.2:c.1022C>G, NM_001278690.2:c.1022C>T, NM_001278690.1:c.1022C>G, NM_001278690.1:c.1022C>T, NP_001265619.1:p.Ala341Gly, NP_001265619.1:p.Ala341Val

Select item 14721266538.

rs1472126653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:167022622 (GRCh38)
6:167436110 (GRCh37)
Canonical SPDI:: NC_000006.12:167022621:A:G
Gene:: CEP43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.167022622A>G, NC_000006.11:g.167436110A>G, NM_007045.4:c.793A>G, NM_007045.3:c.793A>G, NM_194429.3:c.733A>G, NM_194429.2:c.733A>G, NM_001278690.2:c.652A>G, NM_001278690.1:c.652A>G, NP_008976.1:p.Lys265Glu, NP_919410.1:p.Lys245Glu, NP_001265619.1:p.Lys218Glu

Select item 14719898829.

rs1471989882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:167004378 (GRCh38)
6:167417866 (GRCh37)
Canonical SPDI:: NC_000006.12:167004377:G:A
Gene:: CEP43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000048/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.167004378G>A, NC_000006.11:g.167417866G>A, NM_007045.4:c.415G>A, NM_007045.3:c.415G>A, NM_194429.3:c.415G>A, NM_194429.2:c.415G>A, NM_001278690.2:c.415G>A, NM_001278690.1:c.415G>A, NP_008976.1:p.Glu139Lys, NP_919410.1:p.Glu139Lys, NP_001265619.1:p.Glu139Lys

Select item 146876469210.

rs1468764692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:167022533 (GRCh38)
6:167436021 (GRCh37)
Canonical SPDI:: NC_000006.12:167022532:T:C,NC_000006.12:167022532:T:G
Gene:: CEP43 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.167022533T>C, NC_000006.12:g.167022533T>G, NC_000006.11:g.167436021T>C, NC_000006.11:g.167436021T>G, NM_007045.4:c.704T>C, NM_007045.4:c.704T>G, NM_007045.3:c.704T>C, NM_007045.3:c.704T>G, NM_194429.3:c.644T>C, NM_194429.3:c.644T>G, NM_194429.2:c.644T>C, NM_194429.2:c.644T>G, NM_001278690.2:c.563T>C, NM_001278690.2:c.563T>G, NM_001278690.1:c.563T>C, NM_001278690.1:c.563T>G, NP_008976.1:p.Leu235Ser, NP_008976.1:p.Leu235Ter, NP_919410.1:p.Leu215Ser, NP_919410.1:p.Leu215Ter, NP_001265619.1:p.Leu188Ser, NP_001265619.1:p.Leu188Ter

Select item 146789819111.

rs1467898191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:166999462 (GRCh38)
6:167412950 (GRCh37)
Canonical SPDI:: NC_000006.12:166999461:G:A
Gene:: CEP43 (Varview), MIR3939 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.166999462G>A, NC_000006.11:g.167412950G>A, NM_007045.4:c.50G>A, NM_007045.3:c.50G>A, NM_194429.3:c.50G>A, NM_194429.2:c.50G>A, NM_001278690.2:c.50G>A, NM_001278690.1:c.50G>A, NP_008976.1:p.Arg17Gln, NP_919410.1:p.Arg17Gln, NP_001265619.1:p.Arg17Gln

Select item 146565584412.

rs1465655844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:167024889 (GRCh38)
6:167438377 (GRCh37)
Canonical SPDI:: NC_000006.12:167024888:C:G
Gene:: CEP43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.167024889C>G, NC_000006.11:g.167438377C>G, NM_007045.4:c.914C>G, NM_007045.3:c.914C>G, NM_194429.3:c.854C>G, NM_194429.2:c.854C>G, NM_001278690.2:c.773C>G, NM_001278690.1:c.773C>G, NP_008976.1:p.Ser305Cys, NP_919410.1:p.Ser285Cys, NP_001265619.1:p.Ser258Cys

Select item 146152058213.

rs1461520582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:167024834 (GRCh38)
6:167438322 (GRCh37)
Canonical SPDI:: NC_000006.12:167024833:C:T
Gene:: CEP43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.167024834C>T, NC_000006.11:g.167438322C>T, NM_007045.4:c.859C>T, NM_007045.3:c.859C>T, NM_194429.3:c.799C>T, NM_194429.2:c.799C>T, NM_001278690.2:c.718C>T, NM_001278690.1:c.718C>T, NP_008976.1:p.Pro287Ser, NP_919410.1:p.Pro267Ser, NP_001265619.1:p.Pro240Ser

Select item 145918479414.

rs1459184794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:167032632 (GRCh38)
6:167446120 (GRCh37)
Canonical SPDI:: NC_000006.12:167032631:G:T
Gene:: CEP43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.167032632G>T, NC_000006.11:g.167446120G>T, NM_007045.4:c.1018G>T, NM_007045.3:c.1018G>T, NM_194429.3:c.958G>T, NM_194429.2:c.958G>T, NM_001278690.2:c.877G>T, NM_001278690.1:c.877G>T, NP_008976.1:p.Asp340Tyr, NP_919410.1:p.Asp320Tyr, NP_001265619.1:p.Asp293Tyr

Select item 145739241115.

rs1457392411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:167022520 (GRCh38)
6:167436008 (GRCh37)
Canonical SPDI:: NC_000006.12:167022519:A:G
Gene:: CEP43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000006.12:g.167022520A>G, NC_000006.11:g.167436008A>G, NM_007045.4:c.691A>G, NM_007045.3:c.691A>G, NM_194429.3:c.631A>G, NM_194429.2:c.631A>G, NM_001278690.2:c.550A>G, NM_001278690.1:c.550A>G, NP_008976.1:p.Ser231Gly, NP_919410.1:p.Ser211Gly, NP_001265619.1:p.Ser184Gly

Select item 145632313916.

rs1456323139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:167004310 (GRCh38)
6:167417798 (GRCh37)
Canonical SPDI:: NC_000006.12:167004309:T:C
Gene:: CEP43 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.167004310T>C, NC_000006.11:g.167417798T>C, NM_007045.4:c.347T>C, NM_007045.3:c.347T>C, NM_194429.3:c.347T>C, NM_194429.2:c.347T>C, NM_001278690.2:c.347T>C, NM_001278690.1:c.347T>C, NP_008976.1:p.Ile116Thr, NP_919410.1:p.Ile116Thr, NP_001265619.1:p.Ile116Thr

Select item 145524117417.

rs1455241174 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:167040099 (GRCh38)
6:167453587 (GRCh37)
Canonical SPDI:: NC_000006.12:167040098:A:C
Gene:: CEP43 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.167040099A>C, NC_000006.11:g.167453587A>C, NM_007045.4:c.*121A>C, NM_007045.3:c.*121A>C, NM_194429.3:c.*121A>C, NM_194429.2:c.*121A>C, NM_001278690.2:c.1036A>C, NM_001278690.1:c.1036A>C, NP_001265619.1:p.Asn346His

Select item 145089832118.

rs1450898321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:167022562 (GRCh38)
6:167436050 (GRCh37)
Canonical SPDI:: NC_000006.12:167022561:C:G
Gene:: CEP43 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.167022562C>G, NC_000006.11:g.167436050C>G, NM_007045.4:c.733C>G, NM_007045.3:c.733C>G, NM_194429.3:c.673C>G, NM_194429.2:c.673C>G, NM_001278690.2:c.592C>G, NM_001278690.1:c.592C>G, NP_008976.1:p.Pro245Ala, NP_919410.1:p.Pro225Ala, NP_001265619.1:p.Pro198Ala

Select item 144219708819.

rs1442197088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:166999487 (GRCh38)
6:167412975 (GRCh37)
Canonical SPDI:: NC_000006.12:166999486:G:A
Gene:: CEP43 (Varview), MIR3939 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.166999487G>A, NC_000006.11:g.167412975G>A, NM_007045.4:c.75G>A, NM_007045.3:c.75G>A, NM_194429.3:c.75G>A, NM_194429.2:c.75G>A, NM_001278690.2:c.75G>A, NM_001278690.1:c.75G>A

Select item 143819732220.

rs1438197322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:166999448 (GRCh38)
6:167412936 (GRCh37)
Canonical SPDI:: NC_000006.12:166999447:G:A
Gene:: CEP43 (Varview), MIR3939 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.166999448G>A, NC_000006.11:g.167412936G>A, NM_007045.4:c.36G>A, NM_007045.3:c.36G>A, NM_194429.3:c.36G>A, NM_194429.2:c.36G>A, NM_001278690.2:c.36G>A, NM_001278690.1:c.36G>A

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