SNP Links for Protein (Select 21361591) - SNP

Links from Protein

Items: 1 to 20 of 461

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Select item 14888516491.

rs1488851649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:31476076 (GRCh38)
16:31487397 (GRCh37)
Canonical SPDI:: NC_000016.10:31476075:C:A
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.31476076C>A, NC_000016.9:g.31487397C>A, NM_015927.5:c.728C>A, NM_015927.4:c.728C>A, NM_001042454.3:c.779C>A, NM_001042454.2:c.779C>A, XM_024450412.2:c.728C>A, XM_024450412.1:c.728C>A, NM_001164719.1:c.728C>A, NP_057011.2:p.Ala243Asp, NP_001035919.1:p.Ala260Asp, XP_024306180.1:p.Ala243Asp, NP_001158191.1:p.Ala243Asp

Select item 14869245472.

rs1486924547 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31474363 (GRCh38)
16:31485684 (GRCh37)
Canonical SPDI:: NC_000016.10:31474362:T:C
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31474363T>C, NC_000016.9:g.31485684T>C, NM_015927.5:c.376T>C, NM_015927.4:c.376T>C, NM_001042454.3:c.427T>C, NM_001042454.2:c.427T>C, XM_024450412.2:c.376T>C, XM_024450412.1:c.376T>C, NM_001164719.1:c.376T>C, NP_057011.2:p.Ser126Pro, NP_001035919.1:p.Ser143Pro, XP_024306180.1:p.Ser126Pro, NP_001158191.1:p.Ser126Pro

Select item 14858180663.

rs1485818066 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31477474 (GRCh38)
16:31488795 (GRCh37)
Canonical SPDI:: NC_000016.10:31477473:C:T
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31477474C>T, NC_000016.9:g.31488795C>T, NM_015927.5:c.1233C>T, NM_015927.4:c.1233C>T, NM_001042454.3:c.1284C>T, NM_001042454.2:c.1284C>T, XM_024450412.2:c.1233C>T, XM_024450412.1:c.1233C>T, NM_001164719.1:c.1233C>T

Select item 14849657664.

rs1484965766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31473495 (GRCh38)
16:31484816 (GRCh37)
Canonical SPDI:: NC_000016.10:31473494:C:T
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31473495C>T, NC_000016.9:g.31484816C>T, NM_015927.5:c.17C>T, NM_015927.4:c.17C>T, NM_001042454.3:c.68C>T, NM_001042454.2:c.68C>T, XM_024450412.2:c.17C>T, XM_024450412.1:c.17C>T, NM_001164719.1:c.17C>T, NP_057011.2:p.Ala6Val, NP_001035919.1:p.Ala23Val, XP_024306180.1:p.Ala6Val, NP_001158191.1:p.Ala6Val

Select item 14847070335.

rs1484707033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31476989 (GRCh38)
16:31488310 (GRCh37)
Canonical SPDI:: NC_000016.10:31476988:C:T
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/2 (GnomAD_exomes)
T=0.000548/1 (Korea1K)
HGVS:: NC_000016.10:g.31476989C>T, NC_000016.9:g.31488310C>T, NM_015927.5:c.1047C>T, NM_015927.4:c.1047C>T, NM_001042454.3:c.1098C>T, NM_001042454.2:c.1098C>T, XM_024450412.2:c.1047C>T, XM_024450412.1:c.1047C>T, NM_001164719.1:c.1047C>T

Select item 14844451126.

rs1484445112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:31476977 (GRCh38)
16:31488298 (GRCh37)
Canonical SPDI:: NC_000016.10:31476976:C:A
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000016.10:g.31476977C>A, NC_000016.9:g.31488298C>A, NM_015927.5:c.1035C>A, NM_015927.4:c.1035C>A, NM_001042454.3:c.1086C>A, NM_001042454.2:c.1086C>A, XM_024450412.2:c.1035C>A, XM_024450412.1:c.1035C>A, NM_001164719.1:c.1035C>A, NP_057011.2:p.Ser345Arg, NP_001035919.1:p.Ser362Arg, XP_024306180.1:p.Ser345Arg, NP_001158191.1:p.Ser345Arg

Select item 14827485067.

rs1482748506 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:31476015 (GRCh38)
16:31487336 (GRCh37)
Canonical SPDI:: NC_000016.10:31476014:G:T
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31476015G>T, NC_000016.9:g.31487336G>T, NM_015927.5:c.667G>T, NM_015927.4:c.667G>T, NM_001042454.3:c.718G>T, NM_001042454.2:c.718G>T, XM_024450412.2:c.667G>T, XM_024450412.1:c.667G>T, NM_001164719.1:c.667G>T, NP_057011.2:p.Val223Leu, NP_001035919.1:p.Val240Leu, XP_024306180.1:p.Val223Leu, NP_001158191.1:p.Val223Leu

Select item 14779737778.

rs1477973777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31474618 (GRCh38)
16:31485939 (GRCh37)
Canonical SPDI:: NC_000016.10:31474617:C:T
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31474618C>T, NC_000016.9:g.31485939C>T, NM_015927.5:c.524C>T, NM_015927.4:c.524C>T, NM_001042454.3:c.575C>T, NM_001042454.2:c.575C>T, XM_024450412.2:c.524C>T, XM_024450412.1:c.524C>T, NM_001164719.1:c.524C>T, NP_057011.2:p.Ser175Phe, NP_001035919.1:p.Ser192Phe, XP_024306180.1:p.Ser175Phe, NP_001158191.1:p.Ser175Phe

Select item 14742725139.

rs1474272513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31476942 (GRCh38)
16:31488263 (GRCh37)
Canonical SPDI:: NC_000016.10:31476941:G:A
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.31476942G>A, NC_000016.9:g.31488263G>A, NM_015927.5:c.1000G>A, NM_015927.4:c.1000G>A, NM_001042454.3:c.1051G>A, NM_001042454.2:c.1051G>A, XM_024450412.2:c.1000G>A, XM_024450412.1:c.1000G>A, NM_001164719.1:c.1000G>A, NP_057011.2:p.Gly334Ser, NP_001035919.1:p.Gly351Ser, XP_024306180.1:p.Gly334Ser, NP_001158191.1:p.Gly334Ser

Select item 147385713610.

rs1473857136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31477492 (GRCh38)
16:31488813 (GRCh37)
Canonical SPDI:: NC_000016.10:31477491:C:T
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.31477492C>T, NC_000016.9:g.31488813C>T, NM_015927.5:c.1251C>T, NM_015927.4:c.1251C>T, NM_001042454.3:c.1302C>T, NM_001042454.2:c.1302C>T, XM_024450412.2:c.1251C>T, XM_024450412.1:c.1251C>T, NM_001164719.1:c.1251C>T

Select item 147287656011.

rs1472876560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31476992 (GRCh38)
16:31488313 (GRCh37)
Canonical SPDI:: NC_000016.10:31476991:G:A
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.31476992G>A, NC_000016.9:g.31488313G>A, NM_015927.5:c.1050G>A, NM_015927.4:c.1050G>A, NM_001042454.3:c.1101G>A, NM_001042454.2:c.1101G>A, XM_024450412.2:c.1050G>A, XM_024450412.1:c.1050G>A, NM_001164719.1:c.1050G>A

Select item 146908631312.

rs1469086313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31477573 (GRCh38)
16:31488894 (GRCh37)
Canonical SPDI:: NC_000016.10:31477572:C:T
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.31477573C>T, NC_000016.9:g.31488894C>T, NM_015927.5:c.1332C>T, NM_015927.4:c.1332C>T, NM_001042454.3:c.1383C>T, NM_001042454.2:c.1383C>T, XM_024450412.2:c.1332C>T, XM_024450412.1:c.1332C>T, NM_001164719.1:c.1332C>T

Select item 146884224813.

rs1468842248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:31473690 (GRCh38)
16:31485011 (GRCh37)
Canonical SPDI:: NC_000016.10:31473689:T:A,NC_000016.10:31473689:T:C
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31473690T>A, NC_000016.10:g.31473690T>C, NC_000016.9:g.31485011T>A, NC_000016.9:g.31485011T>C, NM_015927.5:c.87T>A, NM_015927.5:c.87T>C, NM_015927.4:c.87T>A, NM_015927.4:c.87T>C, NM_001042454.3:c.138T>A, NM_001042454.3:c.138T>C, NM_001042454.2:c.138T>A, NM_001042454.2:c.138T>C, XM_024450412.2:c.87T>A, XM_024450412.2:c.87T>C, XM_024450412.1:c.87T>A, XM_024450412.1:c.87T>C, NM_001164719.1:c.87T>A, NM_001164719.1:c.87T>C

Select item 146706678114.

rs1467066781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31476168 (GRCh38)
16:31487489 (GRCh37)
Canonical SPDI:: NC_000016.10:31476167:A:G
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31476168A>G, NC_000016.9:g.31487489A>G, NM_015927.5:c.820A>G, NM_015927.4:c.820A>G, NM_001042454.3:c.871A>G, NM_001042454.2:c.871A>G, XM_024450412.2:c.820A>G, XM_024450412.1:c.820A>G, NM_001164719.1:c.820A>G, NP_057011.2:p.Asn274Asp, NP_001035919.1:p.Asn291Asp, XP_024306180.1:p.Asn274Asp, NP_001158191.1:p.Asn274Asp

Select item 146693886915.

rs1466938869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31477385 (GRCh38)
16:31488706 (GRCh37)
Canonical SPDI:: NC_000016.10:31477384:G:A
Gene:: TGFB1I1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.31477385G>A, NC_000016.9:g.31488706G>A, NM_015927.5:c.1144G>A, NM_015927.4:c.1144G>A, NM_001042454.3:c.1195G>A, NM_001042454.2:c.1195G>A, XM_024450412.2:c.1144G>A, XM_024450412.1:c.1144G>A, NM_001164719.1:c.1144G>A, NP_057011.2:p.Ala382Thr, NP_001035919.1:p.Ala399Thr, XP_024306180.1:p.Ala382Thr, NP_001158191.1:p.Ala382Thr

Select item 145967917716.

rs1459679177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:31476876 (GRCh38)
16:31488197 (GRCh37)
Canonical SPDI:: NC_000016.10:31476875:G:A,NC_000016.10:31476875:G:T
Gene:: TGFB1I1 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.31476876G>A, NC_000016.10:g.31476876G>T, NC_000016.9:g.31488197G>A, NC_000016.9:g.31488197G>T, NM_015927.5:c.934G>A, NM_015927.5:c.934G>T, NM_015927.4:c.934G>A, NM_015927.4:c.934G>T, NM_001042454.3:c.985G>A, NM_001042454.3:c.985G>T, NM_001042454.2:c.985G>A, NM_001042454.2:c.985G>T, XM_024450412.2:c.934G>A, XM_024450412.2:c.934G>T, XM_024450412.1:c.934G>A, XM_024450412.1:c.934G>T, NM_001164719.1:c.934G>A, NM_001164719.1:c.934G>T, NP_057011.2:p.Glu312Lys, NP_057011.2:p.Glu312Ter, NP_001035919.1:p.Glu329Lys, NP_001035919.1:p.Glu329Ter, XP_024306180.1:p.Glu312Lys, XP_024306180.1:p.Glu312Ter, NP_001158191.1:p.Glu312Lys, NP_001158191.1:p.Glu312Ter

Select item 145880835217.

rs1458808352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:31477351 (GRCh38)
16:31488672 (GRCh37)
Canonical SPDI:: NC_000016.10:31477350:C:A
Gene:: TGFB1I1 (Varview)
Functional Consequence:: missense_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)
HGVS:: NC_000016.10:g.31477351C>A, NC_000016.9:g.31488672C>A, NM_015927.5:c.1110C>A, NM_015927.4:c.1110C>A, NM_001042454.3:c.1161C>A, NM_001042454.2:c.1161C>A, XM_024450412.2:c.1110C>A, XM_024450412.1:c.1110C>A, NM_001164719.1:c.1110C>A, NP_057011.2:p.His370Gln, NP_001035919.1:p.His387Gln, XP_024306180.1:p.His370Gln, NP_001158191.1:p.His370Gln

Select item 145487533018.

rs1454875330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:31474587 (GRCh38)
16:31485908 (GRCh37)
Canonical SPDI:: NC_000016.10:31474586:C:G
Gene:: TGFB1I1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.31474587C>G, NC_000016.9:g.31485908C>G, NM_015927.5:c.493C>G, NM_015927.4:c.493C>G, NM_001042454.3:c.544C>G, NM_001042454.2:c.544C>G, XM_024450412.2:c.493C>G, XM_024450412.1:c.493C>G, NM_001164719.1:c.493C>G, NP_057011.2:p.Pro165Ala, NP_001035919.1:p.Pro182Ala, XP_024306180.1:p.Pro165Ala, NP_001158191.1:p.Pro165Ala

Select item 145366317119.

rs1453663171 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 16:31473897 (GRCh38)
16:31485218 (GRCh37)
Canonical SPDI:: NC_000016.10:31473896:CC:C
Gene:: TGFB1I1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.31473898del, NC_000016.9:g.31485219del, NM_015927.5:c.195del, NM_015927.4:c.195del, NM_001042454.3:c.246del, NM_001042454.2:c.246del, XM_024450412.2:c.195del, XM_024450412.1:c.195del, NM_001164719.1:c.195del, NP_057011.2:p.Ser66fs, NP_001035919.1:p.Ser83fs, XP_024306180.1:p.Ser66fs, NP_001158191.1:p.Ser66fs

Select item 145152644720.

rs1451526447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31476866 (GRCh38)
16:31488187 (GRCh37)
Canonical SPDI:: NC_000016.10:31476865:C:T
Gene:: TGFB1I1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31476866C>T, NC_000016.9:g.31488187C>T, NM_015927.5:c.924C>T, NM_015927.4:c.924C>T, NM_001042454.3:c.975C>T, NM_001042454.2:c.975C>T, XM_024450412.2:c.924C>T, XM_024450412.1:c.924C>T, NM_001164719.1:c.924C>T

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