SNP Links for Protein (Select 4504935) - SNP

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Links from Protein

Items: 1 to 20 of 562

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Select item 14887926451.

rs1488792645 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:52362453 (GRCh38)
12:52756237 (GRCh37)
Canonical SPDI:: NC_000012.12:52362452:C:A,NC_000012.12:52362452:C:G
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000012.12:g.52362453C>A, NC_000012.12:g.52362453C>G, NC_000012.11:g.52756237C>A, NC_000012.11:g.52756237C>G, NG_008353.1:g.10073G>T, NG_008353.1:g.10073G>C, NM_002283.4:c.1096G>T, NM_002283.4:c.1096G>C, NM_002283.3:c.1096G>T, NM_002283.3:c.1096G>C, NM_001300810.1:c.460G>T, NM_001300810.1:c.460G>C, NP_002274.1:p.Ala366Ser, NP_002274.1:p.Ala366Pro, NP_001287739.1:p.Ala154Ser, NP_001287739.1:p.Ala154Pro

Select item 14846473442.

rs1484647344 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:52363384 (GRCh38)
12:52757168 (GRCh37)
Canonical SPDI:: NC_000012.12:52363383:G:A,NC_000012.12:52363383:G:C
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52363384G>A, NC_000012.12:g.52363384G>C, NC_000012.11:g.52757168G>A, NC_000012.11:g.52757168G>C, NG_008353.1:g.9142C>T, NG_008353.1:g.9142C>G, NM_002283.4:c.813C>T, NM_002283.4:c.813C>G, NM_002283.3:c.813C>T, NM_002283.3:c.813C>G, NM_001300810.1:c.177C>T, NM_001300810.1:c.177C>G, NP_002274.1:p.Ile271Met, NP_001287739.1:p.Ile59Met

Select item 14843335233.

rs1484333523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52362860 (GRCh38)
12:52756644 (GRCh37)
Canonical SPDI:: NC_000012.12:52362859:C:T
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.0001/1 (ALFA)
HGVS:: NC_000012.12:g.52362860C>T, NC_000012.11:g.52756644C>T, NG_008353.1:g.9666G>A, NM_002283.4:c.1071G>A, NM_002283.3:c.1071G>A, NM_001300810.1:c.435G>A

Select item 14797217964.

rs1479721796 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52364134 (GRCh38)
12:52757918 (GRCh37)
Canonical SPDI:: NC_000012.12:52364133:T:C
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52364134T>C, NC_000012.11:g.52757918T>C, NG_008353.1:g.8392A>G, NM_002283.4:c.720A>G, NM_002283.3:c.720A>G, NM_001300810.1:c.84A>G

Select item 14792642015.

rs1479264201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52362409 (GRCh38)
12:52756193 (GRCh37)
Canonical SPDI:: NC_000012.12:52362408:A:G
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000012.12:g.52362409A>G, NC_000012.11:g.52756193A>G, NG_008353.1:g.10117T>C, NM_002283.4:c.1140T>C, NM_002283.3:c.1140T>C, NM_001300810.1:c.504T>C

Select item 14784658996.

rs1478465899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52362871 (GRCh38)
12:52756655 (GRCh37)
Canonical SPDI:: NC_000012.12:52362870:C:T
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52362871C>T, NC_000012.11:g.52756655C>T, NG_008353.1:g.9655G>A, NM_002283.4:c.1060G>A, NM_002283.3:c.1060G>A, NM_001300810.1:c.424G>A, NP_002274.1:p.Glu354Lys, NP_001287739.1:p.Glu142Lys

Select item 14777689787.

rs1477768978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:52362907 (GRCh38)
12:52756691 (GRCh37)
Canonical SPDI:: NC_000012.12:52362906:G:C
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52362907G>C, NC_000012.11:g.52756691G>C, NG_008353.1:g.9619C>G, NM_002283.4:c.1024C>G, NM_002283.3:c.1024C>G, NM_001300810.1:c.388C>G, NP_002274.1:p.Leu342Val, NP_001287739.1:p.Leu130Val

Select item 14764435548.

rs1476443554 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52367387 (GRCh38)
12:52761171 (GRCh37)
Canonical SPDI:: NC_000012.12:52367386:T:C
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52367387T>C, NC_000012.11:g.52761171T>C, NG_008353.1:g.5139A>G, NM_002283.4:c.19A>G, NM_002283.3:c.19A>G, NP_002274.1:p.Arg7Gly

Select item 14741226249.

rs1474122624 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 12:52365057 (GRCh38)
12:52758841 (GRCh37)
Canonical SPDI:: NC_000012.12:52365054:AGAG:AG
Gene:: KRT85 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,frameshift_variant
HGVS:: NC_000012.12:g.52365055AG[1], NC_000012.11:g.52758839AG[1], NG_008353.1:g.7468CT[1], NM_002283.4:c.535_536del, NM_002283.3:c.535_536del, NP_002274.1:p.Leu179fs

Select item 147407061410.

rs1474070614 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52363317 (GRCh38)
12:52757101 (GRCh37)
Canonical SPDI:: NC_000012.12:52363316:C:T
Gene:: KRT85 (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=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.52363317C>T, NC_000012.11:g.52757101C>T, NG_008353.1:g.9209G>A, NM_002283.4:c.880G>A, NM_002283.3:c.880G>A, NM_001300810.1:c.244G>A, NP_002274.1:p.Glu294Lys, NP_001287739.1:p.Glu82Lys

Select item 147392197711.

rs1473921977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52360934 (GRCh38)
12:52754718 (GRCh37)
Canonical SPDI:: NC_000012.12:52360933:C:T
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52360934C>T, NC_000012.11:g.52754718C>T, NG_008353.1:g.11592G>A, NM_002283.4:c.1443G>A, NM_002283.3:c.1443G>A, NM_001300810.1:c.807G>A

Select item 147303968812.

rs1473039688 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:52367084 (GRCh38)
12:52760868 (GRCh37)
Canonical SPDI:: NC_000012.12:52367083:G:C
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.52367084G>C, NC_000012.11:g.52760868G>C, NG_008353.1:g.5442C>G, NM_002283.4:c.322C>G, NM_002283.3:c.322C>G, NP_002274.1:p.Leu108Val

Select item 147197372413.

rs1471973724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:52367314 (GRCh38)
12:52761098 (GRCh37)
Canonical SPDI:: NC_000012.12:52367313:C:T
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52367314C>T, NC_000012.11:g.52761098C>T, NG_008353.1:g.5212G>A, NM_002283.4:c.92G>A, NM_002283.3:c.92G>A, NP_002274.1:p.Arg31His

Select item 146970104114.

rs1469701041 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:52364356 (GRCh38)
12:52758140 (GRCh37)
Canonical SPDI:: NC_000012.12:52364355:C:G
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,intron_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_000012.12:g.52364356C>G, NC_000012.11:g.52758140C>G, NG_008353.1:g.8170G>C, NM_002283.4:c.640G>C, NM_002283.3:c.640G>C, NP_002274.1:p.Glu214Gln

Select item 146959971715.

rs1469599717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:52363337 (GRCh38)
12:52757121 (GRCh37)
Canonical SPDI:: NC_000012.12:52363336:T:C
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.52363337T>C, NC_000012.11:g.52757121T>C, NG_008353.1:g.9189A>G, NM_002283.4:c.860A>G, NM_002283.3:c.860A>G, NM_001300810.1:c.224A>G, NP_002274.1:p.Asn287Ser, NP_001287739.1:p.Asn75Ser

Select item 146736591516.

rs1467365915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:52363324 (GRCh38)
12:52757108 (GRCh37)
Canonical SPDI:: NC_000012.12:52363323:G:A
Gene:: KRT85 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52363324G>A, NC_000012.11:g.52757108G>A, NG_008353.1:g.9202C>T, NM_002283.4:c.873C>T, NM_002283.3:c.873C>T, NM_001300810.1:c.237C>T

Select item 145970950717.

rs1459709507 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:52363260 (GRCh38)
12:52757044 (GRCh37)
Canonical SPDI:: NC_000012.12:52363259:A:G
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.52363260A>G, NC_000012.11:g.52757044A>G, NG_008353.1:g.9266T>C, NM_002283.4:c.937T>C, NM_002283.3:c.937T>C, NM_001300810.1:c.301T>C, NP_002274.1:p.Trp313Arg, NP_001287739.1:p.Trp101Arg

Select item 145698517718.

rs1456985177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:52366991 (GRCh38)
12:52760775 (GRCh37)
Canonical SPDI:: NC_000012.12:52366990:C:G
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.52366991C>G, NC_000012.11:g.52760775C>G, NG_008353.1:g.5535G>C, NM_002283.4:c.415G>C, NM_002283.3:c.415G>C, NP_002274.1:p.Asp139His

Select item 145688641119.

rs1456886411 has merged into rs1265306903 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 12:52367246 (GRCh38)
12:52761030 (GRCh37)
Canonical SPDI:: NC_000012.12:52367245:GG:G,NC_000012.12:52367245:GG:GGG
Gene:: KRT85 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.52367247del, NC_000012.12:g.52367247dup, NC_000012.11:g.52761031del, NC_000012.11:g.52761031dup, NG_008353.1:g.5280del, NG_008353.1:g.5280dup, NM_002283.4:c.160del, NM_002283.4:c.160dup, NM_002283.3:c.160del, NM_002283.3:c.160dup, NP_002274.1:p.Arg54fs, NP_002274.1:p.Arg54fs

Select item 145667245120.

rs1456672451 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 12:52362922 (GRCh38)
12:52756706 (GRCh37)
Canonical SPDI:: NC_000012.12:52362916:CTCCTCCT:CTCCT
Gene:: KRT85 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000546/1 (Korea1K)
HGVS:: NC_000012.12:g.52362919CCT[1], NC_000012.11:g.52756703CCT[1], NG_008353.1:g.9604GAG[1], NM_002283.4:c.1009GAG[1], NM_002283.3:c.1009GAG[1], NM_001300810.1:c.373GAG[1], NP_002274.1:p.Glu338del, NP_001287739.1:p.Glu126del

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