SNP Links for Protein (Select 51972220) - SNP

Links from Protein

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Select item 14901756671.

rs1490175667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1598225 (GRCh38)
11:1619455 (GRCh37)
Canonical SPDI:: NC_000011.10:1598224:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.1598225C>T, NC_000011.9:g.1619455C>T, NW_025791792.1:g.338201C>T, NT_187657.1:g.74768C>T, NT_187584.1:g.80462C>T, NR_021489.2:n.1306C>T, NR_021489.1:n.1307C>T, NM_001004325.2:c.26G>A, NM_001004325.1:c.26G>A, NP_001004325.1:p.Gly9Asp

Select item 14888157502.

rs1488815750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:1598131 (GRCh38)
11:1619361 (GRCh37)
Canonical SPDI:: NC_000011.10:1598130:A:C,NC_000011.10:1598130:A:G
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000018/2 (GnomAD)
C=0.001281/36 (TOMMO)
HGVS:: NC_000011.10:g.1598131A>C, NC_000011.10:g.1598131A>G, NC_000011.9:g.1619361A>C, NC_000011.9:g.1619361A>G, NW_025791792.1:g.338107A>C, NW_025791792.1:g.338107A>G, NT_187657.1:g.74674A>C, NT_187657.1:g.74674A>G, NT_187584.1:g.80368A>C, NT_187584.1:g.80368A>G, NR_021489.2:n.1212A>C, NR_021489.2:n.1212A>G, NR_021489.1:n.1213A>C, NR_021489.1:n.1213A>G, NM_001004325.2:c.120T>G, NM_001004325.2:c.120T>C, NM_001004325.1:c.120T>G, NM_001004325.1:c.120T>C

Select item 14852452803.

rs1485245280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:1597984 (GRCh38)
11:1619214 (GRCh37)
Canonical SPDI:: NC_000011.10:1597983:G:A
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1597984G>A, NC_000011.9:g.1619214G>A, NW_025791792.1:g.337960G>A, NT_187657.1:g.74527G>A, NT_187584.1:g.80221G>A, NR_021489.2:n.1065G>A, NR_021489.1:n.1066G>A, NM_001004325.2:c.267C>T, NM_001004325.1:c.267C>T

Select item 14840410444.

rs1484041044 [Homo sapiens]

Variant type:: DEL
Alleles:: GCC>- [Show Flanks]
Chromosome:: 11:1597984 (GRCh38)
11:1619214 (GRCh37)
Canonical SPDI:: NC_000011.10:1597983:GCC:
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.1597984_1597986del, NC_000011.9:g.1619214_1619216del, NW_025791792.1:g.337960_337962del, NT_187657.1:g.74527_74529del, NT_187584.1:g.80221_80223del, NR_021489.2:n.1065_1067del, NR_021489.1:n.1066_1068del, NM_001004325.2:c.265_267del, NM_001004325.1:c.265_267del, NP_001004325.1:p.Gly89del

Select item 14813090225.

rs1481309022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1598066 (GRCh38)
11:1619296 (GRCh37)
Canonical SPDI:: NC_000011.10:1598065:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1598066C>T, NC_000011.9:g.1619296C>T, NW_025791792.1:g.338042C>T, NT_187657.1:g.74609C>T, NT_187584.1:g.80303C>T, NR_021489.2:n.1147C>T, NR_021489.1:n.1148C>T, NM_001004325.2:c.185G>A, NM_001004325.1:c.185G>A, NP_001004325.1:p.Cys62Tyr

Select item 14788320856.

rs1478832085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:1597729 (GRCh38)
11:1618959 (GRCh37)
Canonical SPDI:: NC_000011.10:1597728:C:G
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1597729C>G, NC_000011.9:g.1618959C>G, NW_025791792.1:g.337705C>G, NT_187657.1:g.74272C>G, NT_187584.1:g.79966C>G, NR_021489.2:n.810C>G, NR_021489.1:n.811C>G, NM_001004325.2:c.522G>C, NM_001004325.1:c.522G>C, NP_001004325.1:p.Gln174His

Select item 14734098997.

rs1473409899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1598008 (GRCh38)
11:1619238 (GRCh37)
Canonical SPDI:: NC_000011.10:1598007:A:G
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.1598008A>G, NC_000011.9:g.1619238A>G, NW_025791792.1:g.337984A>G, NT_187657.1:g.74551A>G, NT_187584.1:g.80245A>G, NR_021489.2:n.1089A>G, NR_021489.1:n.1090A>G, NM_001004325.2:c.243T>C, NM_001004325.1:c.243T>C

Select item 14705818158.

rs1470581815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:1598233 (GRCh38)
11:1619463 (GRCh37)
Canonical SPDI:: NC_000011.10:1598232:G:C
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.1598233G>C, NC_000011.9:g.1619463G>C, NW_025791792.1:g.338209G>C, NT_187657.1:g.74776G>C, NT_187584.1:g.80470G>C, NR_021489.2:n.1314G>C, NR_021489.1:n.1315G>C, NM_001004325.2:c.18C>G, NM_001004325.1:c.18C>G, NP_001004325.1:p.Cys6Trp

Select item 14683629139.

rs1468362913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:1597880 (GRCh38)
11:1619110 (GRCh37)
Canonical SPDI:: NC_000011.10:1597879:C:A,NC_000011.10:1597879:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1597880C>A, NC_000011.10:g.1597880C>T, NC_000011.9:g.1619110C>A, NC_000011.9:g.1619110C>T, NW_025791792.1:g.337856C>A, NW_025791792.1:g.337856C>T, NT_187657.1:g.74423C>A, NT_187657.1:g.74423C>T, NT_187584.1:g.80117C>A, NT_187584.1:g.80117C>T, NR_021489.2:n.961C>A, NR_021489.2:n.961C>T, NR_021489.1:n.962C>A, NR_021489.1:n.962C>T, NM_001004325.2:c.371G>T, NM_001004325.2:c.371G>A, NM_001004325.1:c.371G>T, NM_001004325.1:c.371G>A, NP_001004325.1:p.Cys124Phe, NP_001004325.1:p.Cys124Tyr

Select item 146777860710.

rs1467778607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1598096 (GRCh38)
11:1619326 (GRCh37)
Canonical SPDI:: NC_000011.10:1598095:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.1598096C>T, NC_000011.9:g.1619326C>T, NW_025791792.1:g.338072C>T, NT_187657.1:g.74639C>T, NT_187584.1:g.80333C>T, NR_021489.2:n.1177C>T, NR_021489.1:n.1178C>T, NM_001004325.2:c.155G>A, NM_001004325.1:c.155G>A, NP_001004325.1:p.Cys52Tyr

Select item 146669578211.

rs1466695782 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:1597747 (GRCh38)
11:1618977 (GRCh37)
Canonical SPDI:: NC_000011.10:1597746:A:C
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.1597747A>C, NC_000011.9:g.1618977A>C, NW_025791792.1:g.337723A>C, NT_187657.1:g.74290A>C, NT_187584.1:g.79984A>C, NR_021489.2:n.828A>C, NR_021489.1:n.829A>C, NM_001004325.2:c.504T>G, NM_001004325.1:c.504T>G, NP_001004325.1:p.Cys168Trp

Select item 146668264412.

rs1466682644 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:1598196 (GRCh38)
11:1619426 (GRCh37)
Canonical SPDI:: NC_000011.10:1598195:A:G
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.1598196A>G, NC_000011.9:g.1619426A>G, NW_025791792.1:g.338172A>G, NT_187657.1:g.74739A>G, NT_187584.1:g.80433A>G, NR_021489.2:n.1277A>G, NR_021489.1:n.1278A>G, NM_001004325.2:c.55T>C, NM_001004325.1:c.55T>C, NP_001004325.1:p.Ser19Pro

Select item 146299410413.

rs1462994104 [Homo sapiens]

Variant type:: DEL
Alleles:: CCCCACA>- [Show Flanks]
Chromosome:: 11:1597944 (GRCh38)
11:1619174 (GRCh37)
Canonical SPDI:: NC_000011.10:1597943:CCCCACA:
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.1597944_1597950del, NC_000011.9:g.1619174_1619180del, NW_025791792.1:g.337920_337926del, NT_187657.1:g.74487_74493del, NT_187584.1:g.80181_80187del, NR_021489.2:n.1025_1031del, NR_021489.1:n.1026_1032del, NM_001004325.2:c.301_307del, NM_001004325.1:c.301_307del, NP_001004325.1:p.Cys101fs

Select item 146076328414.

rs1460763284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1598207 (GRCh38)
11:1619437 (GRCh37)
Canonical SPDI:: NC_000011.10:1598206:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.1598207C>T, NC_000011.9:g.1619437C>T, NW_025791792.1:g.338183C>T, NT_187657.1:g.74750C>T, NT_187584.1:g.80444C>T, NR_021489.2:n.1288C>T, NR_021489.1:n.1289C>T, NM_001004325.2:c.44G>A, NM_001004325.1:c.44G>A, NP_001004325.1:p.Gly15Glu

Select item 145863573815.

rs1458635738 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:1598113 (GRCh38)
11:1619343 (GRCh37)
Canonical SPDI:: NC_000011.10:1598112:G:
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.1598113del, NC_000011.9:g.1619343del, NW_025791792.1:g.338089del, NT_187657.1:g.74656del, NT_187584.1:g.80350del, NR_021489.2:n.1194del, NR_021489.1:n.1195del, NM_001004325.2:c.138del, NM_001004325.1:c.138del, NP_001004325.1:p.Ser47fs

Select item 145425485916.

rs1454254859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:1597861 (GRCh38)
11:1619091 (GRCh37)
Canonical SPDI:: NC_000011.10:1597860:T:C
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.1597861T>C, NC_000011.9:g.1619091T>C, NW_025791792.1:g.337837T>C, NT_187657.1:g.74404T>C, NT_187584.1:g.80098T>C, NR_021489.2:n.942T>C, NR_021489.1:n.943T>C, NM_001004325.2:c.390A>G, NM_001004325.1:c.390A>G

Select item 145290846917.

rs1452908469 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAGCCACAGCCCCCACGGCC [Show Flanks]
Chromosome:: 11:1598127 (GRCh38)
11:1619358 (GRCh37)
Canonical SPDI:: NC_000011.10:1598127:GCCAGAGCCACAGCCCCCACGGCC:GCCAGAGCCACAGCCCCCACGGCCAGAGCCACAGCCCCCACGGCC
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,inframe_insertion,coding_sequence_variant
Validated:: by frequency
MAF:: GCCAGAGCCACAGCCCCCACG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1598131_1598151dup, NC_000011.9:g.1619361_1619381dup, NW_025791792.1:g.338107_338127dup, NT_187657.1:g.74674_74694dup, NT_187584.1:g.80368_80388dup, NR_021489.2:n.1212_1232dup, NR_021489.1:n.1213_1233dup, NM_001004325.2:c.103_123dup, NM_001004325.1:c.103_123dup, NP_001004325.1:p.Arg35_Gly41dup

Select item 145206883418.

rs1452068834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:1597844 (GRCh38)
11:1619074 (GRCh37)
Canonical SPDI:: NC_000011.10:1597843:C:G,NC_000011.10:1597843:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1597844C>G, NC_000011.10:g.1597844C>T, NC_000011.9:g.1619074C>G, NC_000011.9:g.1619074C>T, NW_025791792.1:g.337820C>G, NW_025791792.1:g.337820C>T, NT_187657.1:g.74387C>G, NT_187657.1:g.74387C>T, NT_187584.1:g.80081C>G, NT_187584.1:g.80081C>T, NR_021489.2:n.925C>G, NR_021489.2:n.925C>T, NR_021489.1:n.926C>G, NR_021489.1:n.926C>T, NM_001004325.2:c.407G>C, NM_001004325.2:c.407G>A, NM_001004325.1:c.407G>C, NM_001004325.1:c.407G>A, NP_001004325.1:p.Ser136Thr, NP_001004325.1:p.Ser136Asn

Select item 144410461219.

rs1444104612 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1598159 (GRCh38)
11:1619389 (GRCh37)
Canonical SPDI:: NC_000011.10:1598158:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1598159C>T, NC_000011.9:g.1619389C>T, NW_025791792.1:g.338135C>T, NT_187657.1:g.74702C>T, NT_187584.1:g.80396C>T, NR_021489.2:n.1240C>T, NR_021489.1:n.1241C>T, NM_001004325.2:c.92G>A, NM_001004325.1:c.92G>A, NP_001004325.1:p.Cys31Tyr

Select item 144126314220.

rs1441263142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:1597886 (GRCh38)
11:1619116 (GRCh37)
Canonical SPDI:: NC_000011.10:1597885:C:T
Gene:: KRTAP5-AS1 (Varview), KRTAP5-2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.1597886C>T, NC_000011.9:g.1619116C>T, NW_025791792.1:g.337862C>T, NT_187657.1:g.74429C>T, NT_187584.1:g.80123C>T, NR_021489.2:n.967C>T, NR_021489.1:n.968C>T, NM_001004325.2:c.365G>A, NM_001004325.1:c.365G>A, NP_001004325.1:p.Cys122Tyr

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