SNP Links for Protein (Select 206725450) - SNP

Links from Protein

Items: 1 to 20 of 124

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Select item 14908036471.

rs1490803647 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:28613250 (GRCh38)
1:28939762 (GRCh37)
Canonical SPDI:: NC_000001.11:28613249:A:C
Gene:: TAF12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.28613250A>C, NC_000001.10:g.28939762A>C, NM_005644.4:c.358T>G, NM_005644.3:c.358T>G, NM_001135218.2:c.358T>G, NM_001135218.1:c.358T>G, XM_024449360.2:c.514T>G, XM_024449368.2:c.358T>G, XM_024449368.1:c.358T>G, XM_017002186.2:c.472T>G, XM_017002186.1:c.598T>G, NM_001410769.1:c.514T>G, NP_005635.1:p.Leu120Val, NP_001128690.1:p.Leu120Val, XP_024305128.1:p.Leu172Val, XP_024305136.1:p.Leu120Val, XP_016857675.2:p.Leu158Val

Select item 14837755192.

rs1483775519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:28622018 (GRCh38)
1:28948530 (GRCh37)
Canonical SPDI:: NC_000001.11:28622017:G:T
Gene:: TAF12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.28622018G>T, NC_000001.10:g.28948530G>T, NM_005644.4:c.64C>A, NM_005644.3:c.64C>A, NM_001135218.2:c.64C>A, NM_001135218.1:c.64C>A, XM_024449360.2:c.220C>A, XM_024449368.2:c.64C>A, XM_024449368.1:c.64C>A, XM_017002186.2:c.178C>A, XM_017002186.1:c.304C>A, NM_001410769.1:c.220C>A, NP_005635.1:p.Pro22Thr, NP_001128690.1:p.Pro22Thr, XP_024305128.1:p.Pro74Thr, XP_024305136.1:p.Pro22Thr, XP_016857675.2:p.Pro60Thr

Select item 14837430613.

rs1483743061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28618007 (GRCh38)
1:28944519 (GRCh37)
Canonical SPDI:: NC_000001.11:28618006:C:T
Gene:: TAF12 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28618007C>T, NC_000001.10:g.28944519C>T, NM_005644.4:c.192G>A, NM_005644.3:c.192G>A, NM_001135218.2:c.192G>A, NM_001135218.1:c.192G>A, XM_024449360.2:c.348G>A, XM_024449368.2:c.192G>A, XM_024449368.1:c.192G>A, XM_017002186.2:c.306G>A, XM_017002186.1:c.432G>A, NM_001410769.1:c.348G>A

Select item 14691496774.

rs1469149677 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28622055 (GRCh38)
1:28948567 (GRCh37)
Canonical SPDI:: NC_000001.11:28622054:T:C
Gene:: TAF12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.28622055T>C, NC_000001.10:g.28948567T>C, NM_005644.4:c.27A>G, NM_005644.3:c.27A>G, NM_001135218.2:c.27A>G, NM_001135218.1:c.27A>G, XM_024449360.2:c.183A>G, XM_024449368.2:c.27A>G, XM_024449368.1:c.27A>G, XM_017002186.2:c.141A>G, XM_017002186.1:c.267A>G, NM_001410769.1:c.183A>G

Select item 14509674295.

rs1450967429 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:28617985 (GRCh38)
1:28944497 (GRCh37)
Canonical SPDI:: NC_000001.11:28617984:G:T
Gene:: TAF12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28617985G>T, NC_000001.10:g.28944497G>T, NM_005644.4:c.214C>A, NM_005644.3:c.214C>A, NM_001135218.2:c.214C>A, NM_001135218.1:c.214C>A, XM_024449360.2:c.370C>A, XM_024449368.2:c.214C>A, XM_024449368.1:c.214C>A, XM_017002186.2:c.328C>A, XM_017002186.1:c.454C>A, NM_001410769.1:c.370C>A, NP_005635.1:p.Pro72Thr, NP_001128690.1:p.Pro72Thr, XP_024305128.1:p.Pro124Thr, XP_024305136.1:p.Pro72Thr, XP_016857675.2:p.Pro110Thr

Select item 14444720496.

rs1444472049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28613304 (GRCh38)
1:28939816 (GRCh37)
Canonical SPDI:: NC_000001.11:28613303:G:A
Gene:: TAF12 (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.28613304G>A, NC_000001.10:g.28939816G>A, NM_005644.4:c.304C>T, NM_005644.3:c.304C>T, NM_001135218.2:c.304C>T, NM_001135218.1:c.304C>T, XM_024449360.2:c.460C>T, XM_024449368.2:c.304C>T, XM_024449368.1:c.304C>T, XM_017002186.2:c.418C>T, XM_017002186.1:c.544C>T, NM_001410769.1:c.460C>T, NP_005635.1:p.Leu102Phe, NP_001128690.1:p.Leu102Phe, XP_024305128.1:p.Leu154Phe, XP_024305136.1:p.Leu102Phe, XP_016857675.2:p.Leu140Phe

Select item 14321210467.

rs1432121046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:28603560 (GRCh38)
1:28930072 (GRCh37)
Canonical SPDI:: NC_000001.11:28603559:G:C
Gene:: TAF12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.28603560G>C, NC_000001.10:g.28930072G>C, NM_005644.4:c.465C>G, NM_005644.3:c.465C>G, NM_001135218.2:c.465C>G, NM_001135218.1:c.465C>G, XM_024449360.2:c.621C>G, XM_024449368.2:c.465C>G, XM_024449368.1:c.465C>G, XM_017002186.2:c.579C>G, XM_017002186.1:c.705C>G, NM_001410769.1:c.621C>G, NP_005635.1:p.Ile155Met, NP_001128690.1:p.Ile155Met, XP_024305128.1:p.Ile207Met, XP_024305136.1:p.Ile155Met, XP_016857675.2:p.Ile193Met

Select item 14276777278.

rs1427677727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28622043 (GRCh38)
1:28948555 (GRCh37)
Canonical SPDI:: NC_000001.11:28622042:G:A
Gene:: TAF12 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28622043G>A, NC_000001.10:g.28948555G>A, NM_005644.4:c.39C>T, NM_005644.3:c.39C>T, NM_001135218.2:c.39C>T, NM_001135218.1:c.39C>T, XM_024449360.2:c.195C>T, XM_024449368.2:c.39C>T, XM_024449368.1:c.39C>T, XM_017002186.2:c.153C>T, XM_017002186.1:c.279C>T, NM_001410769.1:c.195C>T

Select item 14229116579.

rs1422911657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28603557 (GRCh38)
1:28930069 (GRCh37)
Canonical SPDI:: NC_000001.11:28603556:C:T
Gene:: TAF12 (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.28603557C>T, NC_000001.10:g.28930069C>T, NM_005644.4:c.468G>A, NM_005644.3:c.468G>A, NM_001135218.2:c.468G>A, NM_001135218.1:c.468G>A, XM_024449360.2:c.624G>A, XM_024449368.2:c.468G>A, XM_024449368.1:c.468G>A, XM_017002186.2:c.582G>A, XM_017002186.1:c.708G>A, NM_001410769.1:c.624G>A

Select item 141917347910.

rs1419173479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:28613267 (GRCh38)
1:28939779 (GRCh37)
Canonical SPDI:: NC_000001.11:28613266:T:G
Gene:: TAF12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28613267T>G, NC_000001.10:g.28939779T>G, NM_005644.4:c.341A>C, NM_005644.3:c.341A>C, NM_001135218.2:c.341A>C, NM_001135218.1:c.341A>C, XM_024449360.2:c.497A>C, XM_024449368.2:c.341A>C, XM_024449368.1:c.341A>C, XM_017002186.2:c.455A>C, XM_017002186.1:c.581A>C, NM_001410769.1:c.497A>C, NP_005635.1:p.Lys114Thr, NP_001128690.1:p.Lys114Thr, XP_024305128.1:p.Lys166Thr, XP_024305136.1:p.Lys114Thr, XP_016857675.2:p.Lys152Thr

Select item 141170400211.

rs1411704002 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:28621981 (GRCh38)
1:28948493 (GRCh37)
Canonical SPDI:: NC_000001.11:28621980:C:A
Gene:: TAF12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28621981C>A, NC_000001.10:g.28948493C>A, NM_005644.4:c.101G>T, NM_005644.3:c.101G>T, NM_001135218.2:c.101G>T, NM_001135218.1:c.101G>T, XM_024449360.2:c.257G>T, XM_024449368.2:c.101G>T, XM_024449368.1:c.101G>T, XM_017002186.2:c.215G>T, XM_017002186.1:c.341G>T, NM_001410769.1:c.257G>T, NP_005635.1:p.Ser34Ile, NP_001128690.1:p.Ser34Ile, XP_024305128.1:p.Ser86Ile, XP_024305136.1:p.Ser34Ile, XP_016857675.2:p.Ser72Ile

Select item 141011984812.

rs1410119848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:28613282 (GRCh38)
1:28939794 (GRCh37)
Canonical SPDI:: NC_000001.11:28613281:C:G
Gene:: TAF12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28613282C>G, NC_000001.10:g.28939794C>G, NM_005644.4:c.326G>C, NM_005644.3:c.326G>C, NM_001135218.2:c.326G>C, NM_001135218.1:c.326G>C, XM_024449360.2:c.482G>C, XM_024449368.2:c.326G>C, XM_024449368.1:c.326G>C, XM_017002186.2:c.440G>C, XM_017002186.1:c.566G>C, NM_001410769.1:c.482G>C, NP_005635.1:p.Ser109Thr, NP_001128690.1:p.Ser109Thr, XP_024305128.1:p.Ser161Thr, XP_024305136.1:p.Ser109Thr, XP_016857675.2:p.Ser147Thr

Select item 140597314613.

rs1405973146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28605376 (GRCh38)
1:28931888 (GRCh37)
Canonical SPDI:: NC_000001.11:28605375:T:C
Gene:: TAF12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000016/4 (GnomAD_exomes)
C=0.000021/3 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000001.11:g.28605376T>C, NC_000001.10:g.28931888T>C, NM_005644.4:c.446A>G, NM_005644.3:c.446A>G, NM_001135218.2:c.446A>G, NM_001135218.1:c.446A>G, XM_024449360.2:c.602A>G, XM_024449368.2:c.446A>G, XM_024449368.1:c.446A>G, XM_017002186.2:c.560A>G, XM_017002186.1:c.686A>G, NM_001410769.1:c.602A>G, NP_005635.1:p.Lys149Arg, NP_001128690.1:p.Lys149Arg, XP_024305128.1:p.Lys201Arg, XP_024305136.1:p.Lys149Arg, XP_016857675.2:p.Lys187Arg

Select item 139141778314.

rs1391417783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28605388 (GRCh38)
1:28931900 (GRCh37)
Canonical SPDI:: NC_000001.11:28605387:G:A
Gene:: TAF12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28605388G>A, NC_000001.10:g.28931900G>A, NM_005644.4:c.434C>T, NM_005644.3:c.434C>T, NM_001135218.2:c.434C>T, NM_001135218.1:c.434C>T, XM_024449360.2:c.590C>T, XM_024449368.2:c.434C>T, XM_024449368.1:c.434C>T, XM_017002186.2:c.548C>T, XM_017002186.1:c.674C>T, NM_001410769.1:c.590C>T, NP_005635.1:p.Thr145Ile, NP_001128690.1:p.Thr145Ile, XP_024305128.1:p.Thr197Ile, XP_024305136.1:p.Thr145Ile, XP_016857675.2:p.Thr183Ile

Select item 137315579215.

rs1373155792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28613291 (GRCh38)
1:28939803 (GRCh37)
Canonical SPDI:: NC_000001.11:28613290:C:T
Gene:: TAF12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.28613291C>T, NC_000001.10:g.28939803C>T, NM_005644.4:c.317G>A, NM_005644.3:c.317G>A, NM_001135218.2:c.317G>A, NM_001135218.1:c.317G>A, XM_024449360.2:c.473G>A, XM_024449368.2:c.317G>A, XM_024449368.1:c.317G>A, XM_017002186.2:c.431G>A, XM_017002186.1:c.557G>A, NM_001410769.1:c.473G>A, NP_005635.1:p.Arg106His, NP_001128690.1:p.Arg106His, XP_024305128.1:p.Arg158His, XP_024305136.1:p.Arg106His, XP_016857675.2:p.Arg144His

Select item 137129577216.

rs1371295772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:28621976 (GRCh38)
1:28948488 (GRCh37)
Canonical SPDI:: NC_000001.11:28621975:C:A,NC_000001.11:28621975:C:T
Gene:: TAF12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28621976C>A, NC_000001.11:g.28621976C>T, NC_000001.10:g.28948488C>A, NC_000001.10:g.28948488C>T, NM_005644.4:c.106G>T, NM_005644.4:c.106G>A, NM_005644.3:c.106G>T, NM_005644.3:c.106G>A, NM_001135218.2:c.106G>T, NM_001135218.2:c.106G>A, NM_001135218.1:c.106G>T, NM_001135218.1:c.106G>A, XM_024449360.2:c.262G>T, XM_024449360.2:c.262G>A, XM_024449368.2:c.106G>T, XM_024449368.2:c.106G>A, XM_024449368.1:c.106G>T, XM_024449368.1:c.106G>A, XM_017002186.2:c.220G>T, XM_017002186.2:c.220G>A, XM_017002186.1:c.346G>T, XM_017002186.1:c.346G>A, NM_001410769.1:c.262G>T, NM_001410769.1:c.262G>A, NP_005635.1:p.Ala36Ser, NP_005635.1:p.Ala36Thr, NP_001128690.1:p.Ala36Ser, NP_001128690.1:p.Ala36Thr, XP_024305128.1:p.Ala88Ser, XP_024305128.1:p.Ala88Thr, XP_024305136.1:p.Ala36Ser, XP_024305136.1:p.Ala36Thr, XP_016857675.2:p.Ala74Ser, XP_016857675.2:p.Ala74Thr

Select item 137128442117.

rs1371284421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28605393 (GRCh38)
1:28931905 (GRCh37)
Canonical SPDI:: NC_000001.11:28605392:G:A
Gene:: TAF12 (Varview)
Functional Consequence:: synonymous_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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28605393G>A, NC_000001.10:g.28931905G>A, NM_005644.4:c.429C>T, NM_005644.3:c.429C>T, NM_001135218.2:c.429C>T, NM_001135218.1:c.429C>T, XM_024449360.2:c.585C>T, XM_024449368.2:c.429C>T, XM_024449368.1:c.429C>T, XM_017002186.2:c.543C>T, XM_017002186.1:c.669C>T, NM_001410769.1:c.585C>T

Select item 136044944118.

rs1360449441 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATTATATAA [Show Flanks]
Chromosome:: 1:28603551 (GRCh38)
1:28930064 (GRCh37)
Canonical SPDI:: NC_000001.11:28603551::TATTATATAA
Gene:: TAF12 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.28603551_28603552insTATTATATAA, NC_000001.10:g.28930063_28930064insTATTATATAA, NM_005644.4:c.473_474insTTATATAATA, NM_005644.3:c.473_474insTTATATAATA, NM_001135218.2:c.473_474insTTATATAATA, NM_001135218.1:c.473_474insTTATATAATA, XM_024449360.2:c.629_630insTTATATAATA, XM_024449368.2:c.473_474insTTATATAATA, XM_024449368.1:c.473_474insTTATATAATA, XM_017002186.2:c.587_588insTTATATAATA, XM_017002186.1:c.713_714insTTATATAATA, NM_001410769.1:c.629_630insTTATATAATA, NP_005635.1:p.Thr159fs, NP_001128690.1:p.Thr159fs, XP_024305128.1:p.Thr211fs, XP_024305136.1:p.Thr159fs, XP_016857675.2:p.Thr197fs

Select item 134939297619.

rs1349392976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28605416 (GRCh38)
1:28931928 (GRCh37)
Canonical SPDI:: NC_000001.11:28605415:T:C
Gene:: TAF12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.28605416T>C, NC_000001.10:g.28931928T>C, NM_005644.4:c.406A>G, NM_005644.3:c.406A>G, NM_001135218.2:c.406A>G, NM_001135218.1:c.406A>G, XM_024449360.2:c.562A>G, XM_024449368.2:c.406A>G, XM_024449368.1:c.406A>G, XM_017002186.2:c.520A>G, XM_017002186.1:c.646A>G, NM_001410769.1:c.562A>G, NP_005635.1:p.Ile136Val, NP_001128690.1:p.Ile136Val, XP_024305128.1:p.Ile188Val, XP_024305136.1:p.Ile136Val, XP_016857675.2:p.Ile174Val

Select item 133982366620.

rs1339823666 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:28613326 (GRCh38)
1:28939838 (GRCh37)
Canonical SPDI:: NC_000001.11:28613325:A:C
Gene:: TAF12 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/3 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.28613326A>C, NC_000001.10:g.28939838A>C, NM_005644.4:c.282T>G, NM_005644.3:c.282T>G, NM_001135218.2:c.282T>G, NM_001135218.1:c.282T>G, XM_024449360.2:c.438T>G, XM_024449368.2:c.282T>G, XM_024449368.1:c.282T>G, XM_017002186.2:c.396T>G, XM_017002186.1:c.522T>G, NM_001410769.1:c.438T>G, NP_005635.1:p.Ser94Arg, NP_001128690.1:p.Ser94Arg, XP_024305128.1:p.Ser146Arg, XP_024305136.1:p.Ser94Arg, XP_016857675.2:p.Ser132Arg

dbSNP

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