SNP Links for Protein (Select 530363130) - SNP

Links from Protein

Items: 1 to 20 of 446

<< First< Prev

Page of 23

Next >Last >>

Select item 14898192691.

rs1489819269 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31577155 (GRCh38)
1:32042756 (GRCh37)
Canonical SPDI:: NC_000001.11:31577154:C:T
Gene:: TINAGL1 (Varview), LOC105378626 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,stop_gained,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31577155C>T, NC_000001.10:g.32042756C>T, NG_028164.1:g.5671C>T, NM_022164.3:c.7C>T, NM_022164.2:c.7C>T, NM_001204414.2:c.7C>T, NM_001204414.1:c.7C>T, XM_005271106.4:c.7C>T, XM_005271106.3:c.7C>T, XM_005271106.2:c.7C>T, XM_005271106.1:c.7C>T, NP_071447.1:p.Arg3Ter, NP_001191343.1:p.Arg3Ter, XP_005271163.1:p.Arg3Ter

Select item 14894381502.

rs1489438150 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31577224 (GRCh38)
1:32042825 (GRCh37)
Canonical SPDI:: NC_000001.11:31577223:C:T
Gene:: TINAGL1 (Varview), LOC105378626 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.31577224C>T, NC_000001.10:g.32042825C>T, NG_028164.1:g.5740C>T, NM_022164.3:c.76C>T, NM_022164.2:c.76C>T, NM_001204414.2:c.76C>T, NM_001204414.1:c.76C>T, XM_005271106.4:c.76C>T, XM_005271106.3:c.76C>T, XM_005271106.2:c.76C>T, XM_005271106.1:c.76C>T, NP_071447.1:p.Arg26Cys, NP_001191343.1:p.Arg26Cys, XP_005271163.1:p.Arg26Cys

Select item 14860345623.

rs1486034562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31577383 (GRCh38)
1:32042984 (GRCh37)
Canonical SPDI:: NC_000001.11:31577382:C:T
Gene:: TINAGL1 (Varview), LOC105378626 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_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.31577383C>T, NC_000001.10:g.32042984C>T, NG_028164.1:g.5899C>T, NM_022164.3:c.235C>T, NM_022164.2:c.235C>T, NM_001204414.2:c.235C>T, NM_001204414.1:c.235C>T, XM_005271106.4:c.235C>T, XM_005271106.3:c.235C>T, XM_005271106.2:c.235C>T, XM_005271106.1:c.235C>T, NP_071447.1:p.Arg79Cys, NP_001191343.1:p.Arg79Cys, XP_005271163.1:p.Arg79Cys

Select item 14859623344.

rs1485962334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:31585286 (GRCh38)
1:32050887 (GRCh37)
Canonical SPDI:: NC_000001.11:31585285:T:C
Gene:: TINAGL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31585286T>C, NC_000001.10:g.32050887T>C, NG_028164.1:g.13802T>C, NM_022164.3:c.993T>C, NM_022164.2:c.993T>C, NM_001204414.2:c.900T>C, NM_001204414.1:c.900T>C, NM_001204415.2:c.678T>C, NM_001204415.1:c.678T>C, XM_005271106.4:c.993T>C, XM_005271106.3:c.993T>C, XM_005271106.2:c.993T>C, XM_005271106.1:c.993T>C, XM_005271107.2:c.678T>C, XM_005271107.1:c.678T>C, XM_011541946.2:c.558T>C, XM_011541946.1:c.816T>C, XM_047427608.1:c.678T>C

Select item 14839522545.

rs1483952254 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:31585207 (GRCh38)
1:32050808 (GRCh37)
Canonical SPDI:: NC_000001.11:31585206:C:G,NC_000001.11:31585206:C:T
Gene:: TINAGL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31585207C>G, NC_000001.11:g.31585207C>T, NC_000001.10:g.32050808C>G, NC_000001.10:g.32050808C>T, NG_028164.1:g.13723C>G, NG_028164.1:g.13723C>T, NM_022164.3:c.914C>G, NM_022164.3:c.914C>T, NM_022164.2:c.914C>G, NM_022164.2:c.914C>T, NM_001204414.2:c.821C>G, NM_001204414.2:c.821C>T, NM_001204414.1:c.821C>G, NM_001204414.1:c.821C>T, NM_001204415.2:c.599C>G, NM_001204415.2:c.599C>T, NM_001204415.1:c.599C>G, NM_001204415.1:c.599C>T, XM_005271106.4:c.914C>G, XM_005271106.4:c.914C>T, XM_005271106.3:c.914C>G, XM_005271106.3:c.914C>T, XM_005271106.2:c.914C>G, XM_005271106.2:c.914C>T, XM_005271106.1:c.914C>G, XM_005271106.1:c.914C>T, XM_005271107.2:c.599C>G, XM_005271107.2:c.599C>T, XM_005271107.1:c.599C>G, XM_005271107.1:c.599C>T, XM_011541946.2:c.479C>G, XM_011541946.2:c.479C>T, XM_011541946.1:c.737C>G, XM_011541946.1:c.737C>T, XM_047427608.1:c.599C>G, XM_047427608.1:c.599C>T, NP_071447.1:p.Pro305Arg, NP_071447.1:p.Pro305Leu, NP_001191343.1:p.Pro274Arg, NP_001191343.1:p.Pro274Leu, NP_001191344.1:p.Pro200Arg, NP_001191344.1:p.Pro200Leu, XP_005271163.1:p.Pro305Arg, XP_005271163.1:p.Pro305Leu, XP_005271164.1:p.Pro200Arg, XP_005271164.1:p.Pro200Leu, XP_011540248.2:p.Pro160Arg, XP_011540248.2:p.Pro160Leu, XP_047283564.1:p.Pro200Arg, XP_047283564.1:p.Pro200Leu

Select item 14784551536.

rs1478455153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:31577326 (GRCh38)
1:32042927 (GRCh37)
Canonical SPDI:: NC_000001.11:31577325:G:A
Gene:: TINAGL1 (Varview), LOC105378626 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.31577326G>A, NC_000001.10:g.32042927G>A, NG_028164.1:g.5842G>A, NM_022164.3:c.178G>A, NM_022164.2:c.178G>A, NM_001204414.2:c.178G>A, NM_001204414.1:c.178G>A, XM_005271106.4:c.178G>A, XM_005271106.3:c.178G>A, XM_005271106.2:c.178G>A, XM_005271106.1:c.178G>A, NP_071447.1:p.Asp60Asn, NP_001191343.1:p.Asp60Asn, XP_005271163.1:p.Asp60Asn

Select item 14754976727.

rs1475497672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:31583471 (GRCh38)
1:32049072 (GRCh37)
Canonical SPDI:: NC_000001.11:31583470:G:A
Gene:: TINAGL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.31583471G>A, NC_000001.10:g.32049072G>A, NG_028164.1:g.11987G>A, NM_022164.3:c.478G>A, NM_022164.2:c.478G>A, NM_001204414.2:c.385G>A, NM_001204414.1:c.385G>A, NM_001204415.2:c.163G>A, NM_001204415.1:c.163G>A, XM_005271106.4:c.478G>A, XM_005271106.3:c.478G>A, XM_005271106.2:c.478G>A, XM_005271106.1:c.478G>A, XM_005271107.2:c.163G>A, XM_005271107.1:c.163G>A, XM_011541946.2:c.43G>A, XM_011541946.1:c.301G>A, XM_047427608.1:c.163G>A, NP_071447.1:p.Gly160Arg, NP_001191343.1:p.Gly129Arg, NP_001191344.1:p.Gly55Arg, XP_005271163.1:p.Gly160Arg, XP_005271164.1:p.Gly55Arg, XP_011540248.2:p.Gly15Arg, XP_047283564.1:p.Gly55Arg

Select item 14752222978.

rs1475222297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:31585221 (GRCh38)
1:32050822 (GRCh37)
Canonical SPDI:: NC_000001.11:31585220:A:G
Gene:: TINAGL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31585221A>G, NC_000001.10:g.32050822A>G, NG_028164.1:g.13737A>G, NM_022164.3:c.928A>G, NM_022164.2:c.928A>G, NM_001204414.2:c.835A>G, NM_001204414.1:c.835A>G, NM_001204415.2:c.613A>G, NM_001204415.1:c.613A>G, XM_005271106.4:c.928A>G, XM_005271106.3:c.928A>G, XM_005271106.2:c.928A>G, XM_005271106.1:c.928A>G, XM_005271107.2:c.613A>G, XM_005271107.1:c.613A>G, XM_011541946.2:c.493A>G, XM_011541946.1:c.751A>G, XM_047427608.1:c.613A>G, NP_071447.1:p.Met310Val, NP_001191343.1:p.Met279Val, NP_001191344.1:p.Met205Val, XP_005271163.1:p.Met310Val, XP_005271164.1:p.Met205Val, XP_011540248.2:p.Met165Val, XP_047283564.1:p.Met205Val

Select item 14748872779.

rs1474887277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:31585239 (GRCh38)
1:32050840 (GRCh37)
Canonical SPDI:: NC_000001.11:31585238:A:G
Gene:: TINAGL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.31585239A>G, NC_000001.10:g.32050840A>G, NG_028164.1:g.13755A>G, NM_022164.3:c.946A>G, NM_022164.2:c.946A>G, NM_001204414.2:c.853A>G, NM_001204414.1:c.853A>G, NM_001204415.2:c.631A>G, NM_001204415.1:c.631A>G, XM_005271106.4:c.946A>G, XM_005271106.3:c.946A>G, XM_005271106.2:c.946A>G, XM_005271106.1:c.946A>G, XM_005271107.2:c.631A>G, XM_005271107.1:c.631A>G, XM_011541946.2:c.511A>G, XM_011541946.1:c.769A>G, XM_047427608.1:c.631A>G, NP_071447.1:p.Met316Val, NP_001191343.1:p.Met285Val, NP_001191344.1:p.Met211Val, XP_005271163.1:p.Met316Val, XP_005271164.1:p.Met211Val, XP_011540248.2:p.Met171Val, XP_047283564.1:p.Met211Val

Select item 147071714810.

rs1470717148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31585191 (GRCh38)
1:32050792 (GRCh37)
Canonical SPDI:: NC_000001.11:31585190:C:T
Gene:: TINAGL1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.31585191C>T, NC_000001.10:g.32050792C>T, NG_028164.1:g.13707C>T, NM_022164.3:c.898C>T, NM_022164.2:c.898C>T, NM_001204414.2:c.805C>T, NM_001204414.1:c.805C>T, NM_001204415.2:c.583C>T, NM_001204415.1:c.583C>T, XM_005271106.4:c.898C>T, XM_005271106.3:c.898C>T, XM_005271106.2:c.898C>T, XM_005271106.1:c.898C>T, XM_005271107.2:c.583C>T, XM_005271107.1:c.583C>T, XM_011541946.2:c.463C>T, XM_011541946.1:c.721C>T, XM_047427608.1:c.583C>T, NP_071447.1:p.Arg300Ter, NP_001191343.1:p.Arg269Ter, NP_001191344.1:p.Arg195Ter, XP_005271163.1:p.Arg300Ter, XP_005271164.1:p.Arg195Ter, XP_011540248.2:p.Arg155Ter, XP_047283564.1:p.Arg195Ter

Select item 146806381711.

rs1468063817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:31583239 (GRCh38)
1:32048840 (GRCh37)
Canonical SPDI:: NC_000001.11:31583238:T:C
Gene:: TINAGL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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.31583239T>C, NC_000001.10:g.32048840T>C, NG_028164.1:g.11755T>C, NM_022164.3:c.465T>C, NM_022164.2:c.465T>C, NM_001204415.2:c.150T>C, NM_001204415.1:c.150T>C, XM_005271106.4:c.465T>C, XM_005271106.3:c.465T>C, XM_005271106.2:c.465T>C, XM_005271106.1:c.465T>C, XM_005271107.2:c.150T>C, XM_005271107.1:c.150T>C, XM_011541946.2:c.30T>C, XM_011541946.1:c.288T>C, XM_047427608.1:c.150T>C

Select item 146658222012.

rs1466582220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:31586934 (GRCh38)
1:32052535 (GRCh37)
Canonical SPDI:: NC_000001.11:31586933:G:A
Gene:: TINAGL1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000012/2 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.31586934G>A, NC_000001.10:g.32052535G>A, NG_028164.1:g.15450G>A, NM_022164.3:c.1359G>A, NM_022164.2:c.1359G>A, NM_001204414.2:c.1266G>A, NM_001204414.1:c.1266G>A, NM_001204415.2:c.1044G>A, NM_001204415.1:c.1044G>A, XM_005271106.4:c.1235G>A, XM_005271106.3:c.1235G>A, XM_005271106.2:c.1235G>A, XM_005271106.1:c.1235G>A, XM_005271107.2:c.1044G>A, XM_005271107.1:c.1044G>A, XM_011541946.2:c.924G>A, XM_011541946.1:c.1182G>A, XM_047427608.1:c.920G>A, XP_005271163.1:p.Trp412Ter, XP_047283564.1:p.Trp307Ter

Select item 146154566813.

rs1461545668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:31585178 (GRCh38)
1:32050779 (GRCh37)
Canonical SPDI:: NC_000001.11:31585177:C:A
Gene:: TINAGL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31585178C>A, NC_000001.10:g.32050779C>A, NG_028164.1:g.13694C>A, NM_022164.3:c.885C>A, NM_022164.2:c.885C>A, NM_001204414.2:c.792C>A, NM_001204414.1:c.792C>A, NM_001204415.2:c.570C>A, NM_001204415.1:c.570C>A, XM_005271106.4:c.885C>A, XM_005271106.3:c.885C>A, XM_005271106.2:c.885C>A, XM_005271106.1:c.885C>A, XM_005271107.2:c.570C>A, XM_005271107.1:c.570C>A, XM_011541946.2:c.450C>A, XM_011541946.1:c.708C>A, XM_047427608.1:c.570C>A, NP_071447.1:p.Phe295Leu, NP_001191343.1:p.Phe264Leu, NP_001191344.1:p.Phe190Leu, XP_005271163.1:p.Phe295Leu, XP_005271164.1:p.Phe190Leu, XP_011540248.2:p.Phe150Leu, XP_047283564.1:p.Phe190Leu

Select item 145992375514.

rs1459923755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31577239 (GRCh38)
1:32042840 (GRCh37)
Canonical SPDI:: NC_000001.11:31577238:C:T
Gene:: TINAGL1 (Varview), LOC105378626 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.31577239C>T, NC_000001.10:g.32042840C>T, NG_028164.1:g.5755C>T, NM_022164.3:c.91C>T, NM_022164.2:c.91C>T, NM_001204414.2:c.91C>T, NM_001204414.1:c.91C>T, XM_005271106.4:c.91C>T, XM_005271106.3:c.91C>T, XM_005271106.2:c.91C>T, XM_005271106.1:c.91C>T

Select item 145863971215.

rs1458639712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:31586858 (GRCh38)
1:32052459 (GRCh37)
Canonical SPDI:: NC_000001.11:31586857:G:T
Gene:: TINAGL1 (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.31586858G>T, NC_000001.10:g.32052459G>T, NG_028164.1:g.15374G>T, NM_022164.3:c.1283G>T, NM_022164.2:c.1283G>T, NM_001204414.2:c.1190G>T, NM_001204414.1:c.1190G>T, NM_001204415.2:c.968G>T, NM_001204415.1:c.968G>T, XM_005271106.4:c.1159G>T, XM_005271106.3:c.1159G>T, XM_005271106.2:c.1159G>T, XM_005271106.1:c.1159G>T, XM_005271107.2:c.968G>T, XM_005271107.1:c.968G>T, XM_011541946.2:c.848G>T, XM_011541946.1:c.1106G>T, XM_047427608.1:c.844G>T, NP_071447.1:p.Gly428Val, NP_001191343.1:p.Gly397Val, NP_001191344.1:p.Gly323Val, XP_005271163.1:p.Ala387Ser, XP_005271164.1:p.Gly323Val, XP_011540248.2:p.Gly283Val, XP_047283564.1:p.Ala282Ser

Select item 145235036816.

rs1452350368 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:31585287 (GRCh38)
1:32050888 (GRCh37)
Canonical SPDI:: NC_000001.11:31585286:G:A
Gene:: TINAGL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.31585287G>A, NC_000001.10:g.32050888G>A, NG_028164.1:g.13803G>A, NM_022164.3:c.994G>A, NM_022164.2:c.994G>A, NM_001204414.2:c.901G>A, NM_001204414.1:c.901G>A, NM_001204415.2:c.679G>A, NM_001204415.1:c.679G>A, XM_005271106.4:c.994G>A, XM_005271106.3:c.994G>A, XM_005271106.2:c.994G>A, XM_005271106.1:c.994G>A, XM_005271107.2:c.679G>A, XM_005271107.1:c.679G>A, XM_011541946.2:c.559G>A, XM_011541946.1:c.817G>A, XM_047427608.1:c.679G>A, NP_071447.1:p.Val332Ile, NP_001191343.1:p.Val301Ile, NP_001191344.1:p.Val227Ile, XP_005271163.1:p.Val332Ile, XP_005271164.1:p.Val227Ile, XP_011540248.2:p.Val187Ile, XP_047283564.1:p.Val227Ile

Select item 144801693717.

rs1448016937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:31586996 (GRCh38)
1:32052597 (GRCh37)
Canonical SPDI:: NC_000001.11:31586995:C:A,NC_000001.11:31586995:C:T
Gene:: TINAGL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.31586996C>A, NC_000001.11:g.31586996C>T, NC_000001.10:g.32052597C>A, NC_000001.10:g.32052597C>T, NG_028164.1:g.15512C>A, NG_028164.1:g.15512C>T, NM_022164.3:c.*17C>A, NM_022164.3:c.*17C>T, NM_022164.2:c.*17C>A, NM_022164.2:c.*17C>T, NM_001204414.2:c.*17C>A, NM_001204414.2:c.*17C>T, NM_001204414.1:c.*17C>A, NM_001204414.1:c.*17C>T, NM_001204415.2:c.*17C>A, NM_001204415.2:c.*17C>T, NM_001204415.1:c.*17C>A, NM_001204415.1:c.*17C>T, XM_005271106.4:c.1297C>A, XM_005271106.4:c.1297C>T, XM_005271106.3:c.1297C>A, XM_005271106.3:c.1297C>T, XM_005271106.2:c.1297C>A, XM_005271106.2:c.1297C>T, XM_005271106.1:c.1297C>A, XM_005271106.1:c.1297C>T, XM_005271107.2:c.*17C>A, XM_005271107.2:c.*17C>T, XM_005271107.1:c.*17C>A, XM_005271107.1:c.*17C>T, XM_011541946.2:c.*17C>A, XM_011541946.2:c.*17C>T, XM_011541946.1:c.*17C>A, XM_011541946.1:c.*17C>T, XM_047427608.1:c.982C>A, XM_047427608.1:c.982C>T, XP_005271163.1:p.Arg433Trp, XP_047283564.1:p.Arg328Trp

Select item 144466496018.

rs1444664960 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:31584997 (GRCh38)
1:32050598 (GRCh37)
Canonical SPDI:: NC_000001.11:31584996:G:A
Gene:: TINAGL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.31584997G>A, NC_000001.10:g.32050598G>A, NG_028164.1:g.13513G>A, NM_022164.3:c.818G>A, NM_022164.2:c.818G>A, NM_001204414.2:c.725G>A, NM_001204414.1:c.725G>A, NM_001204415.2:c.503G>A, NM_001204415.1:c.503G>A, XM_005271106.4:c.818G>A, XM_005271106.3:c.818G>A, XM_005271106.2:c.818G>A, XM_005271106.1:c.818G>A, XM_005271107.2:c.503G>A, XM_005271107.1:c.503G>A, XM_011541946.2:c.383G>A, XM_011541946.1:c.641G>A, XM_047427608.1:c.503G>A, NP_071447.1:p.Gly273Glu, NP_001191343.1:p.Gly242Glu, NP_001191344.1:p.Gly168Glu, XP_005271163.1:p.Gly273Glu, XP_005271164.1:p.Gly168Glu, XP_011540248.2:p.Gly128Glu, XP_047283564.1:p.Gly168Glu

Select item 144269821519.

rs1442698215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31585276 (GRCh38)
1:32050877 (GRCh37)
Canonical SPDI:: NC_000001.11:31585275:C:T
Gene:: TINAGL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.31585276C>T, NC_000001.10:g.32050877C>T, NG_028164.1:g.13792C>T, NM_022164.3:c.983C>T, NM_022164.2:c.983C>T, NM_001204414.2:c.890C>T, NM_001204414.1:c.890C>T, NM_001204415.2:c.668C>T, NM_001204415.1:c.668C>T, XM_005271106.4:c.983C>T, XM_005271106.3:c.983C>T, XM_005271106.2:c.983C>T, XM_005271106.1:c.983C>T, XM_005271107.2:c.668C>T, XM_005271107.1:c.668C>T, XM_011541946.2:c.548C>T, XM_011541946.1:c.806C>T, XM_047427608.1:c.668C>T, NP_071447.1:p.Pro328Leu, NP_001191343.1:p.Pro297Leu, NP_001191344.1:p.Pro223Leu, XP_005271163.1:p.Pro328Leu, XP_005271164.1:p.Pro223Leu, XP_011540248.2:p.Pro183Leu, XP_047283564.1:p.Pro223Leu

Select item 144234503320.

rs1442345033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:31587014 (GRCh38)
1:32052615 (GRCh37)
Canonical SPDI:: NC_000001.11:31587013:C:T
Gene:: TINAGL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_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.31587014C>T, NC_000001.10:g.32052615C>T, NG_028164.1:g.15530C>T, NM_022164.3:c.*35C>T, NM_022164.2:c.*35C>T, NM_001204414.2:c.*35C>T, NM_001204414.1:c.*35C>T, NM_001204415.2:c.*35C>T, NM_001204415.1:c.*35C>T, XM_005271106.4:c.1315C>T, XM_005271106.3:c.1315C>T, XM_005271106.2:c.1315C>T, XM_005271106.1:c.1315C>T, XM_005271107.2:c.*35C>T, XM_005271107.1:c.*35C>T, XM_011541946.2:c.*35C>T, XM_011541946.1:c.*35C>T, XM_047427608.1:c.1000C>T, XP_005271163.1:p.Pro439Ser, XP_047283564.1:p.Pro334Ser

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 446

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity