SNP Links for Protein (Select 526118251) - SNP

Links from Protein

Items: 1 to 20 of 775

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Select item 14861858601.

rs1486185860 has merged into rs782612801 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGC [Show Flanks]
Chromosome:: 1:145872639 (GRCh38)
1:145562436 (GRCh37)
Canonical SPDI:: NC_000001.11:145872639:GCGGGC:GCGGGCGGGC
Gene:: ANKRD35 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGGCGGGC=0./0 (ALFA)
GCCC=0.000004/1 (GnomAD_exomes)
GCGG=0.000007/1 (GnomAD)
GCCC=0.000009/1 (ExAC)
GCGG=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.145872642_145872645dup, NW_003871055.3:g.2688055_2688058dup, NC_000001.10:g.145562438_145562441dup, NM_144698.5:c.2126_2129dup, NM_144698.4:c.2126_2129dup, NM_001280799.2:c.1856_1859dup, NM_001280799.1:c.1856_1859dup, NP_653299.4:p.Asp711fs, NP_001267728.1:p.Asp621fs

Select item 14860463042.

rs1486046304 has merged into rs781870438 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:145872250 (GRCh38)
1:145562828 (GRCh37)
Canonical SPDI:: NC_000001.11:145872249:CCCC:CCC
Gene:: ANKRD35 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.00002/2 (ExAC)
HGVS:: NC_000001.11:g.145872253del, NW_003871055.3:g.2687666del, NC_000001.10:g.145562831del, NM_144698.5:c.2519del, NM_144698.4:c.2519del, NM_001280799.2:c.2249del, NM_001280799.1:c.2249del, NP_653299.4:p.Gly840fs, NP_001267728.1:p.Gly750fs

Select item 14836762973.

rs1483676297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145873366 (GRCh38)
1:145561715 (GRCh37)
Canonical SPDI:: NC_000001.11:145873365:G:A
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145873366G>A, NW_003871055.3:g.2688779G>A, NC_000001.10:g.145561715C>T, NM_144698.5:c.1403C>T, NM_144698.4:c.1403C>T, NM_001280799.2:c.1133C>T, NM_001280799.1:c.1133C>T, NP_653299.4:p.Ser468Phe, NP_001267728.1:p.Ser378Phe

Select item 14805080934.

rs1480508093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145873849 (GRCh38)
1:145561232 (GRCh37)
Canonical SPDI:: NC_000001.11:145873848:C:T
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.145873849C>T, NW_003871055.3:g.2689262C>T, NC_000001.10:g.145561232G>A, NM_144698.5:c.920G>A, NM_144698.4:c.920G>A, NM_001280799.2:c.650G>A, NM_001280799.1:c.650G>A, NP_653299.4:p.Arg307Lys, NP_001267728.1:p.Arg217Lys

Select item 14792120665.

rs1479212066 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145876593 (GRCh38)
1:145558488 (GRCh37)
Canonical SPDI:: NC_000001.11:145876592:T:C
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.145876593T>C, NW_003871055.3:g.2692006T>C, NC_000001.10:g.145558488A>G, NM_144698.5:c.429A>G, NM_144698.4:c.429A>G, NM_001280799.2:c.159A>G, NM_001280799.1:c.159A>G

Select item 14781419856.

rs1478141985 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145873833 (GRCh38)
1:145561248 (GRCh37)
Canonical SPDI:: NC_000001.11:145873832:C:T
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145873833C>T, NW_003871055.3:g.2689246C>T, NC_000001.10:g.145561248G>A, NM_144698.5:c.936G>A, NM_144698.4:c.936G>A, NM_001280799.2:c.666G>A, NM_001280799.1:c.666G>A

Select item 14761803947.

rs1476180394 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:145872869 (GRCh38)
1:145562212 (GRCh37)
Canonical SPDI:: NC_000001.11:145872868:A:C
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.145872869A>C, NW_003871055.3:g.2688282A>C, NC_000001.10:g.145562212T>G, NM_144698.5:c.1900T>G, NM_144698.4:c.1900T>G, NM_001280799.2:c.1630T>G, NM_001280799.1:c.1630T>G, NP_653299.4:p.Leu634Val, NP_001267728.1:p.Leu544Val

Select item 14746909308.

rs1474690930 has merged into rs782150401 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 1:145873235 (GRCh38)
1:145561841 (GRCh37)
Canonical SPDI:: NC_000001.11:145873234:CCCCCC:CCCCC,NC_000001.11:145873234:CCCCCC:CCCCCCC
Gene:: ANKRD35 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0.000216/4 (ALFA)
-=0.00005/7 (GnomAD)
G=0.000052/13 (GnomAD_exomes)
G=0.000058/7 (ExAC)
G=0.00024/3 (GoESP)
G=0.000893/4 (Estonian)
HGVS:: NC_000001.11:g.145873240del, NC_000001.11:g.145873240dup, NW_003871055.3:g.2688653del, NW_003871055.3:g.2688653dup, NC_000001.10:g.145561846del, NC_000001.10:g.145561846dup, NM_144698.5:c.1534del, NM_144698.5:c.1534dup, NM_144698.4:c.1534del, NM_144698.4:c.1534dup, NM_001280799.2:c.1264del, NM_001280799.2:c.1264dup, NM_001280799.1:c.1264del, NM_001280799.1:c.1264dup, NP_653299.4:p.Ala512fs, NP_653299.4:p.Ala512fs, NP_001267728.1:p.Ala422fs, NP_001267728.1:p.Ala422fs

Select item 14746400069.

rs1474640006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145872129 (GRCh38)
1:145562952 (GRCh37)
Canonical SPDI:: NC_000001.11:145872128:C:T
Gene:: ANKRD35 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.145872129C>T, NW_003871055.3:g.2687542C>T, NC_000001.10:g.145562952G>A, NM_144698.5:c.2640G>A, NM_144698.4:c.2640G>A, NM_001280799.2:c.2370G>A, NM_001280799.1:c.2370G>A

Select item 147018826210.

rs1470188262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145872997 (GRCh38)
1:145562084 (GRCh37)
Canonical SPDI:: NC_000001.11:145872996:G:A
Gene:: ANKRD35 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145872997G>A, NW_003871055.3:g.2688410G>A, NC_000001.10:g.145562084C>T, NM_144698.5:c.1772C>T, NM_144698.4:c.1772C>T, NM_001280799.2:c.1502C>T, NM_001280799.1:c.1502C>T, NP_653299.4:p.Ala591Val, NP_001267728.1:p.Ala501Val

Select item 146817124511.

rs1468171245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:145872980 (GRCh38)
1:145562101 (GRCh37)
Canonical SPDI:: NC_000001.11:145872979:C:A,NC_000001.11:145872979:C:G,NC_000001.11:145872979:C:T
Gene:: ANKRD35 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145872980C>A, NC_000001.11:g.145872980C>G, NC_000001.11:g.145872980C>T, NW_003871055.3:g.2688393C>A, NW_003871055.3:g.2688393C>G, NW_003871055.3:g.2688393C>T, NC_000001.10:g.145562101G>T, NC_000001.10:g.145562101G>C, NC_000001.10:g.145562101G>A, NM_144698.5:c.1789G>T, NM_144698.5:c.1789G>C, NM_144698.5:c.1789G>A, NM_144698.4:c.1789G>T, NM_144698.4:c.1789G>C, NM_144698.4:c.1789G>A, NM_001280799.2:c.1519G>T, NM_001280799.2:c.1519G>C, NM_001280799.2:c.1519G>A, NM_001280799.1:c.1519G>T, NM_001280799.1:c.1519G>C, NM_001280799.1:c.1519G>A, NP_653299.4:p.Gly597Trp, NP_653299.4:p.Gly597Arg, NP_653299.4:p.Gly597Arg, NP_001267728.1:p.Gly507Trp, NP_001267728.1:p.Gly507Arg, NP_001267728.1:p.Gly507Arg

Select item 146779593312.

rs1467795933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145872990 (GRCh38)
1:145562091 (GRCh37)
Canonical SPDI:: NC_000001.11:145872989:T:C
Gene:: ANKRD35 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.145872990T>C, NW_003871055.3:g.2688403T>C, NC_000001.10:g.145562091A>G, NM_144698.5:c.1779A>G, NM_144698.4:c.1779A>G, NM_001280799.2:c.1509A>G, NM_001280799.1:c.1509A>G

Select item 146735564513.

rs1467355645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:145872540 (GRCh38)
1:145562541 (GRCh37)
Canonical SPDI:: NC_000001.11:145872539:G:A
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.145872540G>A, NW_003871055.3:g.2687953G>A, NC_000001.10:g.145562541C>T, NM_144698.5:c.2229C>T, NM_144698.4:c.2229C>T, NM_001280799.2:c.1959C>T, NM_001280799.1:c.1959C>T

Select item 146500369014.

rs1465003690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145874913 (GRCh38)
1:145560168 (GRCh37)
Canonical SPDI:: NC_000001.11:145874912:T:C
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.145874913T>C, NW_003871055.3:g.2690326T>C, NC_000001.10:g.145560168A>G, NM_144698.5:c.654A>G, NM_144698.4:c.654A>G, NM_001280799.2:c.384A>G, NM_001280799.1:c.384A>G

Select item 146232467515.

rs1462324675 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145872832 (GRCh38)
1:145562249 (GRCh37)
Canonical SPDI:: NC_000001.11:145872831:T:C
Gene:: ANKRD35 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.145872832T>C, NW_003871055.3:g.2688245T>C, NC_000001.10:g.145562249A>G, NM_144698.5:c.1937A>G, NM_144698.4:c.1937A>G, NM_001280799.2:c.1667A>G, NM_001280799.1:c.1667A>G, NP_653299.4:p.Gln646Arg, NP_001267728.1:p.Gln556Arg

Select item 146172967216.

rs1461729672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:145872738 (GRCh38)
1:145562343 (GRCh37)
Canonical SPDI:: NC_000001.11:145872737:T:C
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145872738T>C, NW_003871055.3:g.2688151T>C, NC_000001.10:g.145562343A>G, NM_144698.5:c.2031A>G, NM_144698.4:c.2031A>G, NM_001280799.2:c.1761A>G, NM_001280799.1:c.1761A>G

Select item 145586737517.

rs1455867375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:145872622 (GRCh38)
1:145562459 (GRCh37)
Canonical SPDI:: NC_000001.11:145872621:C:G
Gene:: ANKRD35 (Varview)
Functional Consequence:: 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_000001.11:g.145872622C>G, NW_003871055.3:g.2688035C>G, NC_000001.10:g.145562459G>C, NM_144698.5:c.2147G>C, NM_144698.4:c.2147G>C, NM_001280799.2:c.1877G>C, NM_001280799.1:c.1877G>C, NP_653299.4:p.Arg716Thr, NP_001267728.1:p.Arg626Thr

Select item 145401046818.

rs1454010468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145867335 (GRCh38)
1:145567751 (GRCh37)
Canonical SPDI:: NC_000001.11:145867334:C:T
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145867335C>T, NW_003871055.3:g.2682748C>T, NC_000001.10:g.145567751G>A, NM_144698.5:c.3001G>A, NM_144698.4:c.3001G>A, NM_001280799.2:c.2731G>A, NM_001280799.1:c.2731G>A, NP_653299.4:p.Glu1001Lys, NP_001267728.1:p.Glu911Lys

Select item 144401559719.

rs1444015597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:145873435 (GRCh38)
1:145561646 (GRCh37)
Canonical SPDI:: NC_000001.11:145873434:G:C
Gene:: ANKRD35 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.145873435G>C, NW_003871055.3:g.2688848G>C, NC_000001.10:g.145561646C>G, NM_144698.5:c.1334C>G, NM_144698.4:c.1334C>G, NM_001280799.2:c.1064C>G, NM_001280799.1:c.1064C>G, NP_653299.4:p.Thr445Ser, NP_001267728.1:p.Thr355Ser

Select item 144374862420.

rs1443748624 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:145873843 (GRCh38)
1:145561238 (GRCh37)
Canonical SPDI:: NC_000001.11:145873842:A:G
Gene:: ANKRD35 (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_000001.11:g.145873843A>G, NW_003871055.3:g.2689256A>G, NC_000001.10:g.145561238T>C, NM_144698.5:c.926T>C, NM_144698.4:c.926T>C, NM_001280799.2:c.656T>C, NM_001280799.1:c.656T>C, NP_653299.4:p.Val309Ala, NP_001267728.1:p.Val219Ala

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