SNP Links for Protein (Select 594190833) - SNP

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Links from Protein

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Select item 14896095221.

rs1489609522 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47219956 (GRCh38)
1:47685628 (GRCh37)
Canonical SPDI:: NC_000001.11:47219955:C:T
Gene:: TAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.47219956C>T, NC_000001.10:g.47685628C>T, NM_003189.5:c.760G>A, NM_003189.4:c.760G>A, NM_003189.3:c.760G>A, NM_003189.2:c.760G>A, NM_001287347.2:c.760G>A, NM_001287347.1:c.760G>A, NM_001290403.2:c.760G>A, NM_001290403.1:c.760G>A, XM_017002191.2:c.760G>A, XM_017002191.1:c.760G>A, NM_001290406.2:c.283G>A, NM_001290406.1:c.283G>A, XM_047429045.1:c.937G>A, NM_001290404.1:c.760G>A, XM_047429046.1:c.937G>A, NM_001290405.1:c.760G>A, XM_047429047.1:c.283G>A, NP_003180.1:p.Ala254Thr, NP_001274276.1:p.Ala254Thr, NP_001277332.1:p.Ala254Thr, XP_016857680.1:p.Ala254Thr, NP_001277335.1:p.Ala95Thr, XP_047285001.1:p.Ala313Thr, NP_001277333.1:p.Ala254Thr, XP_047285002.1:p.Ala313Thr, NP_001277334.1:p.Ala254Thr, XP_047285003.1:p.Ala95Thr

Select item 14894808732.

rs1489480873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:47220150 (GRCh38)
1:47685822 (GRCh37)
Canonical SPDI:: NC_000001.11:47220149:C:A,NC_000001.11:47220149:C:G
Gene:: TAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.47220150C>A, NC_000001.11:g.47220150C>G, NC_000001.10:g.47685822C>A, NC_000001.10:g.47685822C>G, NM_003189.5:c.566G>T, NM_003189.5:c.566G>C, NM_003189.4:c.566G>T, NM_003189.4:c.566G>C, NM_003189.3:c.566G>T, NM_003189.3:c.566G>C, NM_003189.2:c.566G>T, NM_003189.2:c.566G>C, NM_001287347.2:c.566G>T, NM_001287347.2:c.566G>C, NM_001287347.1:c.566G>T, NM_001287347.1:c.566G>C, NM_001290403.2:c.566G>T, NM_001290403.2:c.566G>C, NM_001290403.1:c.566G>T, NM_001290403.1:c.566G>C, XM_017002191.2:c.566G>T, XM_017002191.2:c.566G>C, XM_017002191.1:c.566G>T, XM_017002191.1:c.566G>C, NM_001290406.2:c.89G>T, NM_001290406.2:c.89G>C, NM_001290406.1:c.89G>T, NM_001290406.1:c.89G>C, XM_047429045.1:c.743G>T, XM_047429045.1:c.743G>C, NM_001290404.1:c.566G>T, NM_001290404.1:c.566G>C, XM_047429046.1:c.743G>T, XM_047429046.1:c.743G>C, NM_001290405.1:c.566G>T, NM_001290405.1:c.566G>C, XM_047429047.1:c.89G>T, XM_047429047.1:c.89G>C, NP_003180.1:p.Arg189Leu, NP_003180.1:p.Arg189Pro, NP_001274276.1:p.Arg189Leu, NP_001274276.1:p.Arg189Pro, NP_001277332.1:p.Arg189Leu, NP_001277332.1:p.Arg189Pro, XP_016857680.1:p.Arg189Leu, XP_016857680.1:p.Arg189Pro, NP_001277335.1:p.Arg30Leu, NP_001277335.1:p.Arg30Pro, XP_047285001.1:p.Arg248Leu, XP_047285001.1:p.Arg248Pro, NP_001277333.1:p.Arg189Leu, NP_001277333.1:p.Arg189Pro, XP_047285002.1:p.Arg248Leu, XP_047285002.1:p.Arg248Pro, NP_001277334.1:p.Arg189Leu, NP_001277334.1:p.Arg189Pro, XP_047285003.1:p.Arg30Leu, XP_047285003.1:p.Arg30Pro

Select item 14849626143.

rs1484962614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:47219757 (GRCh38)
1:47685429 (GRCh37)
Canonical SPDI:: NC_000001.11:47219756:G:A
Gene:: TAL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.47219757G>A, NC_000001.10:g.47685429G>A, NM_003189.5:c.959C>T, NM_003189.4:c.959C>T, NM_003189.3:c.959C>T, NM_003189.2:c.959C>T, NM_001287347.2:c.959C>T, NM_001287347.1:c.959C>T, NM_001290403.2:c.959C>T, NM_001290403.1:c.959C>T, XM_017002191.2:c.959C>T, XM_017002191.1:c.959C>T, NM_001290406.2:c.482C>T, NM_001290406.1:c.482C>T, XM_047429045.1:c.1136C>T, NM_001290404.1:c.959C>T, XM_047429046.1:c.1136C>T, NM_001290405.1:c.959C>T, XM_047429047.1:c.482C>T, NP_003180.1:p.Ala320Val, NP_001274276.1:p.Ala320Val, NP_001277332.1:p.Ala320Val, XP_016857680.1:p.Ala320Val, NP_001277335.1:p.Ala161Val, XP_047285001.1:p.Ala379Val, NP_001277333.1:p.Ala320Val, XP_047285002.1:p.Ala379Val, NP_001277334.1:p.Ala320Val, XP_047285003.1:p.Ala161Val

Select item 14797084344.

rs1479708434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47219917 (GRCh38)
1:47685589 (GRCh37)
Canonical SPDI:: NC_000001.11:47219916:C:T
Gene:: TAL1 (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)
HGVS:: NC_000001.11:g.47219917C>T, NC_000001.10:g.47685589C>T, NM_003189.5:c.799G>A, NM_003189.4:c.799G>A, NM_003189.3:c.799G>A, NM_003189.2:c.799G>A, NM_001287347.2:c.799G>A, NM_001287347.1:c.799G>A, NM_001290403.2:c.799G>A, NM_001290403.1:c.799G>A, XM_017002191.2:c.799G>A, XM_017002191.1:c.799G>A, NM_001290406.2:c.322G>A, NM_001290406.1:c.322G>A, XM_047429045.1:c.976G>A, NM_001290404.1:c.799G>A, XM_047429046.1:c.976G>A, NM_001290405.1:c.799G>A, XM_047429047.1:c.322G>A, NP_003180.1:p.Gly267Ser, NP_001274276.1:p.Gly267Ser, NP_001277332.1:p.Gly267Ser, XP_016857680.1:p.Gly267Ser, NP_001277335.1:p.Gly108Ser, XP_047285001.1:p.Gly326Ser, NP_001277333.1:p.Gly267Ser, XP_047285002.1:p.Gly326Ser, NP_001277334.1:p.Gly267Ser, XP_047285003.1:p.Gly108Ser

Select item 14791948065.

rs1479194806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47219904 (GRCh38)
1:47685576 (GRCh37)
Canonical SPDI:: NC_000001.11:47219903:C:T
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.47219904C>T, NC_000001.10:g.47685576C>T, NM_003189.5:c.812G>A, NM_003189.4:c.812G>A, NM_003189.3:c.812G>A, NM_003189.2:c.812G>A, NM_001287347.2:c.812G>A, NM_001287347.1:c.812G>A, NM_001290403.2:c.812G>A, NM_001290403.1:c.812G>A, XM_017002191.2:c.812G>A, XM_017002191.1:c.812G>A, NM_001290406.2:c.335G>A, NM_001290406.1:c.335G>A, XM_047429045.1:c.989G>A, NM_001290404.1:c.812G>A, XM_047429046.1:c.989G>A, NM_001290405.1:c.812G>A, XM_047429047.1:c.335G>A, NP_003180.1:p.Gly271Glu, NP_001274276.1:p.Gly271Glu, NP_001277332.1:p.Gly271Glu, XP_016857680.1:p.Gly271Glu, NP_001277335.1:p.Gly112Glu, XP_047285001.1:p.Gly330Glu, NP_001277333.1:p.Gly271Glu, XP_047285002.1:p.Gly330Glu, NP_001277334.1:p.Gly271Glu, XP_047285003.1:p.Gly112Glu

Select item 14784986026.

rs1478498602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47219842 (GRCh38)
1:47685514 (GRCh37)
Canonical SPDI:: NC_000001.11:47219841:C:T
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.47219842C>T, NC_000001.10:g.47685514C>T, NM_003189.5:c.874G>A, NM_003189.4:c.874G>A, NM_003189.3:c.874G>A, NM_003189.2:c.874G>A, NM_001287347.2:c.874G>A, NM_001287347.1:c.874G>A, NM_001290403.2:c.874G>A, NM_001290403.1:c.874G>A, XM_017002191.2:c.874G>A, XM_017002191.1:c.874G>A, NM_001290406.2:c.397G>A, NM_001290406.1:c.397G>A, XM_047429045.1:c.1051G>A, NM_001290404.1:c.874G>A, XM_047429046.1:c.1051G>A, NM_001290405.1:c.874G>A, XM_047429047.1:c.397G>A, NP_003180.1:p.Gly292Ser, NP_001274276.1:p.Gly292Ser, NP_001277332.1:p.Gly292Ser, XP_016857680.1:p.Gly292Ser, NP_001277335.1:p.Gly133Ser, XP_047285001.1:p.Gly351Ser, NP_001277333.1:p.Gly292Ser, XP_047285002.1:p.Gly351Ser, NP_001277334.1:p.Gly292Ser, XP_047285003.1:p.Gly133Ser

Select item 14765597427.

rs1476559742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:47224042 (GRCh38)
1:47689714 (GRCh37)
Canonical SPDI:: NC_000001.11:47224041:T:C
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.47224042T>C, NC_000001.10:g.47689714T>C, NM_003189.5:c.503A>G, NM_003189.4:c.503A>G, NM_003189.3:c.503A>G, NM_003189.2:c.503A>G, NM_001287347.2:c.503A>G, NM_001287347.1:c.503A>G, NM_001290403.2:c.503A>G, NM_001290403.1:c.503A>G, XM_017002191.2:c.503A>G, XM_017002191.1:c.503A>G, NM_001290406.2:c.26A>G, NM_001290406.1:c.26A>G, XM_047429045.1:c.680A>G, NM_001290404.1:c.503A>G, XM_047429046.1:c.680A>G, NM_001290405.1:c.503A>G, XM_047429047.1:c.26A>G, NP_003180.1:p.Lys168Arg, NP_001274276.1:p.Lys168Arg, NP_001277332.1:p.Lys168Arg, XP_016857680.1:p.Lys168Arg, NP_001277335.1:p.Lys9Arg, XP_047285001.1:p.Lys227Arg, NP_001277333.1:p.Lys168Arg, XP_047285002.1:p.Lys227Arg, NP_001277334.1:p.Lys168Arg, XP_047285003.1:p.Lys9Arg

Select item 14750408858.

rs1475040885 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 1:47219977 (GRCh38)
1:47685649 (GRCh37)
Canonical SPDI:: NC_000001.11:47219967:CCTCCTCCTCCT:CCTCCTCCT
Gene:: TAL1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000001.11:g.47219968CCT[3], NC_000001.10:g.47685640CCT[3], NM_003189.5:c.737AGG[3], NM_003189.4:c.737AGG[3], NM_003189.3:c.737AGG[3], NM_003189.2:c.737AGG[3], NM_001287347.2:c.737AGG[3], NM_001287347.1:c.737AGG[3], NM_001290403.2:c.737AGG[3], NM_001290403.1:c.737AGG[3], XM_017002191.2:c.737AGG[3], XM_017002191.1:c.737AGG[3], NM_001290406.2:c.260AGG[3], NM_001290406.1:c.260AGG[3], XM_047429045.1:c.914AGG[3], NM_001290404.1:c.737AGG[3], XM_047429046.1:c.914AGG[3], NM_001290405.1:c.737AGG[3], XM_047429047.1:c.260AGG[3], NP_003180.1:p.Glu249del, NP_001274276.1:p.Glu249del, NP_001277332.1:p.Glu249del, XP_016857680.1:p.Glu249del, NP_001277335.1:p.Glu90del, XP_047285001.1:p.Glu308del, NP_001277333.1:p.Glu249del, XP_047285002.1:p.Glu308del, NP_001277334.1:p.Glu249del, XP_047285003.1:p.Glu90del

Select item 14682254789.

rs1468225478 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:47219829 (GRCh38)
1:47685501 (GRCh37)
Canonical SPDI:: NC_000001.11:47219828:T:A,NC_000001.11:47219828:T:C
Gene:: TAL1 (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)
HGVS:: NC_000001.11:g.47219829T>A, NC_000001.11:g.47219829T>C, NC_000001.10:g.47685501T>A, NC_000001.10:g.47685501T>C, NM_003189.5:c.887A>T, NM_003189.5:c.887A>G, NM_003189.4:c.887A>T, NM_003189.4:c.887A>G, NM_003189.3:c.887A>T, NM_003189.3:c.887A>G, NM_003189.2:c.887A>T, NM_003189.2:c.887A>G, NM_001287347.2:c.887A>T, NM_001287347.2:c.887A>G, NM_001287347.1:c.887A>T, NM_001287347.1:c.887A>G, NM_001290403.2:c.887A>T, NM_001290403.2:c.887A>G, NM_001290403.1:c.887A>T, NM_001290403.1:c.887A>G, XM_017002191.2:c.887A>T, XM_017002191.2:c.887A>G, XM_017002191.1:c.887A>T, XM_017002191.1:c.887A>G, NM_001290406.2:c.410A>T, NM_001290406.2:c.410A>G, NM_001290406.1:c.410A>T, NM_001290406.1:c.410A>G, XM_047429045.1:c.1064A>T, XM_047429045.1:c.1064A>G, NM_001290404.1:c.887A>T, NM_001290404.1:c.887A>G, XM_047429046.1:c.1064A>T, XM_047429046.1:c.1064A>G, NM_001290405.1:c.887A>T, NM_001290405.1:c.887A>G, XM_047429047.1:c.410A>T, XM_047429047.1:c.410A>G, NP_003180.1:p.Asp296Val, NP_003180.1:p.Asp296Gly, NP_001274276.1:p.Asp296Val, NP_001274276.1:p.Asp296Gly, NP_001277332.1:p.Asp296Val, NP_001277332.1:p.Asp296Gly, XP_016857680.1:p.Asp296Val, XP_016857680.1:p.Asp296Gly, NP_001277335.1:p.Asp137Val, NP_001277335.1:p.Asp137Gly, XP_047285001.1:p.Asp355Val, XP_047285001.1:p.Asp355Gly, NP_001277333.1:p.Asp296Val, NP_001277333.1:p.Asp296Gly, XP_047285002.1:p.Asp355Val, XP_047285002.1:p.Asp355Gly, NP_001277334.1:p.Asp296Val, NP_001277334.1:p.Asp296Gly, XP_047285003.1:p.Asp137Val, XP_047285003.1:p.Asp137Gly

Select item 146110942810.

rs1461109428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:47219771 (GRCh38)
1:47685443 (GRCh37)
Canonical SPDI:: NC_000001.11:47219770:G:T
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.47219771G>T, NC_000001.10:g.47685443G>T, NM_003189.5:c.945C>A, NM_003189.4:c.945C>A, NM_003189.3:c.945C>A, NM_003189.2:c.945C>A, NM_001287347.2:c.945C>A, NM_001287347.1:c.945C>A, NM_001290403.2:c.945C>A, NM_001290403.1:c.945C>A, XM_017002191.2:c.945C>A, XM_017002191.1:c.945C>A, NM_001290406.2:c.468C>A, NM_001290406.1:c.468C>A, XM_047429045.1:c.1122C>A, NM_001290404.1:c.945C>A, XM_047429046.1:c.1122C>A, NM_001290405.1:c.945C>A, XM_047429047.1:c.468C>A

Select item 143061727911.

rs1430617279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:47220047 (GRCh38)
1:47685719 (GRCh37)
Canonical SPDI:: NC_000001.11:47220046:G:A
Gene:: TAL1 (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.47220047G>A, NC_000001.10:g.47685719G>A, NM_003189.5:c.669C>T, NM_003189.4:c.669C>T, NM_003189.3:c.669C>T, NM_003189.2:c.669C>T, NM_001287347.2:c.669C>T, NM_001287347.1:c.669C>T, NM_001290403.2:c.669C>T, NM_001290403.1:c.669C>T, XM_017002191.2:c.669C>T, XM_017002191.1:c.669C>T, NM_001290406.2:c.192C>T, NM_001290406.1:c.192C>T, XM_047429045.1:c.846C>T, NM_001290404.1:c.669C>T, XM_047429046.1:c.846C>T, NM_001290405.1:c.669C>T, XM_047429047.1:c.192C>T

Select item 142807256112.

rs1428072561 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:47219854 (GRCh38)
1:47685527 (GRCh37)
Canonical SPDI:: NC_000001.11:47219854:GGGGG:GGGGGG
Gene:: TAL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.47219859dup, NC_000001.10:g.47685531dup, NM_003189.5:c.861dup, NM_003189.4:c.861dup, NM_003189.3:c.861dup, NM_003189.2:c.861dup, NM_001287347.2:c.861dup, NM_001287347.1:c.861dup, NM_001290403.2:c.861dup, NM_001290403.1:c.861dup, XM_017002191.2:c.861dup, XM_017002191.1:c.861dup, NM_001290406.2:c.384dup, NM_001290406.1:c.384dup, XM_047429045.1:c.1038dup, NM_001290404.1:c.861dup, XM_047429046.1:c.1038dup, NM_001290405.1:c.861dup, XM_047429047.1:c.384dup, NP_003180.1:p.Asn288fs, NP_001274276.1:p.Asn288fs, NP_001277332.1:p.Asn288fs, XP_016857680.1:p.Asn288fs, NP_001277335.1:p.Asn129fs, XP_047285001.1:p.Asn347fs, NP_001277333.1:p.Asn288fs, XP_047285002.1:p.Asn347fs, NP_001277334.1:p.Asn288fs, XP_047285003.1:p.Asn129fs

Select item 142494712913.

rs1424947129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAC,CCCCCCCCCCCCCCCCCCCCCCAC [Show Flanks]
Chromosome:: 1:47219901 (GRCh38)
1:47685574 (GRCh37)
Canonical SPDI:: NC_000001.11:47219901:C:CCAC,NC_000001.11:47219901:C:CCCCCCCCCCCCCCCCCCCCCCCAC
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion
Validated:: by frequency,by cluster
MAF:: CCA=0.0002/1 (1000Genomes)
HGVS:: NC_000001.11:g.47219902_47219903insCAC, NC_000001.11:g.47219902C[23]AC[1], NC_000001.10:g.47685574_47685575insCAC, NC_000001.10:g.47685574C[23]AC[1], NM_003189.5:c.814_815insTGG, NM_003189.5:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, NM_003189.4:c.814_815insTGG, NM_003189.4:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, NM_003189.3:c.814_815insTGG, NM_003189.3:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, NM_003189.2:c.814_815insTGG, NM_003189.2:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, NM_001287347.2:c.814_815insTGG, NM_001287347.2:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, NM_001287347.1:c.814_815insTGG, NM_001287347.1:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, NM_001290403.2:c.814_815insTGG, NM_001290403.2:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, NM_001290403.1:c.814_815insTGG, NM_001290403.1:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, XM_017002191.2:c.814_815insTGG, XM_017002191.2:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, XM_017002191.1:c.814_815insTGG, XM_017002191.1:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, NM_001290406.2:c.337_338insTGG, NM_001290406.2:c.337_338insTGGGGGGGGGGGGGGGGGGGGGGG, NM_001290406.1:c.337_338insTGG, NM_001290406.1:c.337_338insTGGGGGGGGGGGGGGGGGGGGGGG, XM_047429045.1:c.991_992insTGG, XM_047429045.1:c.991_992insTGGGGGGGGGGGGGGGGGGGGGGG, NM_001290404.1:c.814_815insTGG, NM_001290404.1:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, XM_047429046.1:c.991_992insTGG, XM_047429046.1:c.991_992insTGGGGGGGGGGGGGGGGGGGGGGG, NM_001290405.1:c.814_815insTGG, NM_001290405.1:c.814_815insTGGGGGGGGGGGGGGGGGGGGGGG, XM_047429047.1:c.337_338insTGG, XM_047429047.1:c.337_338insTGGGGGGGGGGGGGGGGGGGGGGG, NP_003180.1:p.Gly272_Gly273insVal, NP_003180.1:p.265_271G[7]VGGGGGGG[1], NP_001274276.1:p.Gly272_Gly273insVal, NP_001274276.1:p.265_271G[7]VGGGGGGG[1], NP_001277332.1:p.Gly272_Gly273insVal, NP_001277332.1:p.265_271G[7]VGGGGGGG[1], XP_016857680.1:p.Gly272_Gly273insVal, XP_016857680.1:p.265_271G[7]VGGGGGGG[1], NP_001277335.1:p.Gly113_Gly114insVal, NP_001277335.1:p.106_112G[7]VGGGGGGG[1], XP_047285001.1:p.Gly331_Gly332insVal, XP_047285001.1:p.324_330G[7]VGGGGGGG[1], NP_001277333.1:p.Gly272_Gly273insVal, NP_001277333.1:p.265_271G[7]VGGGGGGG[1], XP_047285002.1:p.Gly331_Gly332insVal, XP_047285002.1:p.324_330G[7]VGGGGGGG[1], NP_001277334.1:p.Gly272_Gly273insVal, NP_001277334.1:p.265_271G[7]VGGGGGGG[1], XP_047285003.1:p.Gly113_Gly114insVal, XP_047285003.1:p.106_112G[7]VGGGGGGG[1]

Select item 142444971714.

rs1424449717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:47220059 (GRCh38)
1:47685731 (GRCh37)
Canonical SPDI:: NC_000001.11:47220058:C:G,NC_000001.11:47220058:C:T
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.47220059C>G, NC_000001.11:g.47220059C>T, NC_000001.10:g.47685731C>G, NC_000001.10:g.47685731C>T, NM_003189.5:c.657G>C, NM_003189.5:c.657G>A, NM_003189.4:c.657G>C, NM_003189.4:c.657G>A, NM_003189.3:c.657G>C, NM_003189.3:c.657G>A, NM_003189.2:c.657G>C, NM_003189.2:c.657G>A, NM_001287347.2:c.657G>C, NM_001287347.2:c.657G>A, NM_001287347.1:c.657G>C, NM_001287347.1:c.657G>A, NM_001290403.2:c.657G>C, NM_001290403.2:c.657G>A, NM_001290403.1:c.657G>C, NM_001290403.1:c.657G>A, XM_017002191.2:c.657G>C, XM_017002191.2:c.657G>A, XM_017002191.1:c.657G>C, XM_017002191.1:c.657G>A, NM_001290406.2:c.180G>C, NM_001290406.2:c.180G>A, NM_001290406.1:c.180G>C, NM_001290406.1:c.180G>A, XM_047429045.1:c.834G>C, XM_047429045.1:c.834G>A, NM_001290404.1:c.657G>C, NM_001290404.1:c.657G>A, XM_047429046.1:c.834G>C, XM_047429046.1:c.834G>A, NM_001290405.1:c.657G>C, NM_001290405.1:c.657G>A, XM_047429047.1:c.180G>C, XM_047429047.1:c.180G>A

Select item 140470978015.

rs1404709780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47219724 (GRCh38)
1:47685396 (GRCh37)
Canonical SPDI:: NC_000001.11:47219723:C:T
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.47219724C>T, NC_000001.10:g.47685396C>T, NM_003189.5:c.992G>A, NM_003189.4:c.992G>A, NM_003189.3:c.992G>A, NM_003189.2:c.992G>A, NM_001287347.2:c.992G>A, NM_001287347.1:c.992G>A, NM_001290403.2:c.992G>A, NM_001290403.1:c.992G>A, XM_017002191.2:c.992G>A, XM_017002191.1:c.992G>A, NM_001290406.2:c.515G>A, NM_001290406.1:c.515G>A, XM_047429045.1:c.1169G>A, NM_001290404.1:c.992G>A, XM_047429046.1:c.1169G>A, NM_001290405.1:c.992G>A, XM_047429047.1:c.515G>A, NP_003180.1:p.Arg331Gln, NP_001274276.1:p.Arg331Gln, NP_001277332.1:p.Arg331Gln, XP_016857680.1:p.Arg331Gln, NP_001277335.1:p.Arg172Gln, XP_047285001.1:p.Arg390Gln, NP_001277333.1:p.Arg331Gln, XP_047285002.1:p.Arg390Gln, NP_001277334.1:p.Arg331Gln, XP_047285003.1:p.Arg172Gln

Select item 140320781616.

rs1403207816 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:47219924 (GRCh38)
1:47685596 (GRCh37)
Canonical SPDI:: NC_000001.11:47219923:A:C
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.00563/94 (TOMMO)
HGVS:: NC_000001.11:g.47219924A>C, NC_000001.10:g.47685596A>C, NM_003189.5:c.792T>G, NM_003189.4:c.792T>G, NM_003189.3:c.792T>G, NM_003189.2:c.792T>G, NM_001287347.2:c.792T>G, NM_001287347.1:c.792T>G, NM_001290403.2:c.792T>G, NM_001290403.1:c.792T>G, XM_017002191.2:c.792T>G, XM_017002191.1:c.792T>G, NM_001290406.2:c.315T>G, NM_001290406.1:c.315T>G, XM_047429045.1:c.969T>G, NM_001290404.1:c.792T>G, XM_047429046.1:c.969T>G, NM_001290405.1:c.792T>G, XM_047429047.1:c.315T>G

Select item 140022655417.

rs1400226554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:47220126 (GRCh38)
1:47685798 (GRCh37)
Canonical SPDI:: NC_000001.11:47220125:C:G
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.47220126C>G, NC_000001.10:g.47685798C>G, NM_003189.5:c.590G>C, NM_003189.4:c.590G>C, NM_003189.3:c.590G>C, NM_003189.2:c.590G>C, NM_001287347.2:c.590G>C, NM_001287347.1:c.590G>C, NM_001290403.2:c.590G>C, NM_001290403.1:c.590G>C, XM_017002191.2:c.590G>C, XM_017002191.1:c.590G>C, NM_001290406.2:c.113G>C, NM_001290406.1:c.113G>C, XM_047429045.1:c.767G>C, NM_001290404.1:c.590G>C, XM_047429046.1:c.767G>C, NM_001290405.1:c.590G>C, XM_047429047.1:c.113G>C, NP_003180.1:p.Arg197Pro, NP_001274276.1:p.Arg197Pro, NP_001277332.1:p.Arg197Pro, XP_016857680.1:p.Arg197Pro, NP_001277335.1:p.Arg38Pro, XP_047285001.1:p.Arg256Pro, NP_001277333.1:p.Arg197Pro, XP_047285002.1:p.Arg256Pro, NP_001277334.1:p.Arg197Pro, XP_047285003.1:p.Arg38Pro

Select item 139630392918.

rs1396303929 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:47224050 (GRCh38)
1:47689722 (GRCh37)
Canonical SPDI:: NC_000001.11:47224049:A:G
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.47224050A>G, NC_000001.10:g.47689722A>G, NM_003189.5:c.495T>C, NM_003189.4:c.495T>C, NM_003189.3:c.495T>C, NM_003189.2:c.495T>C, NM_001287347.2:c.495T>C, NM_001287347.1:c.495T>C, NM_001290403.2:c.495T>C, NM_001290403.1:c.495T>C, XM_017002191.2:c.495T>C, XM_017002191.1:c.495T>C, NM_001290406.2:c.18T>C, NM_001290406.1:c.18T>C, XM_047429045.1:c.672T>C, NM_001290404.1:c.495T>C, XM_047429046.1:c.672T>C, NM_001290405.1:c.495T>C, XM_047429047.1:c.18T>C

Select item 139368402119.

rs1393684021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:47224010 (GRCh38)
1:47689682 (GRCh37)
Canonical SPDI:: NC_000001.11:47224009:T:G
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.47224010T>G, NC_000001.10:g.47689682T>G, NM_003189.5:c.535A>C, NM_003189.4:c.535A>C, NM_003189.3:c.535A>C, NM_003189.2:c.535A>C, NM_001287347.2:c.535A>C, NM_001287347.1:c.535A>C, NM_001290403.2:c.535A>C, NM_001290403.1:c.535A>C, XM_017002191.2:c.535A>C, XM_017002191.1:c.535A>C, NM_001290406.2:c.58A>C, NM_001290406.1:c.58A>C, XM_047429045.1:c.712A>C, NM_001290404.1:c.535A>C, XM_047429046.1:c.712A>C, NM_001290405.1:c.535A>C, XM_047429047.1:c.58A>C, NP_003180.1:p.Thr179Pro, NP_001274276.1:p.Thr179Pro, NP_001277332.1:p.Thr179Pro, XP_016857680.1:p.Thr179Pro, NP_001277335.1:p.Thr20Pro, XP_047285001.1:p.Thr238Pro, NP_001277333.1:p.Thr179Pro, XP_047285002.1:p.Thr238Pro, NP_001277334.1:p.Thr179Pro, XP_047285003.1:p.Thr20Pro

Select item 139215980620.

rs1392159806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:47219800 (GRCh38)
1:47685472 (GRCh37)
Canonical SPDI:: NC_000001.11:47219799:C:T
Gene:: TAL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.47219800C>T, NC_000001.10:g.47685472C>T, NM_003189.5:c.916G>A, NM_003189.4:c.916G>A, NM_003189.3:c.916G>A, NM_003189.2:c.916G>A, NM_001287347.2:c.916G>A, NM_001287347.1:c.916G>A, NM_001290403.2:c.916G>A, NM_001290403.1:c.916G>A, XM_017002191.2:c.916G>A, XM_017002191.1:c.916G>A, NM_001290406.2:c.439G>A, NM_001290406.1:c.439G>A, XM_047429045.1:c.1093G>A, NM_001290404.1:c.916G>A, XM_047429046.1:c.1093G>A, NM_001290405.1:c.916G>A, XM_047429047.1:c.439G>A, NP_003180.1:p.Glu306Lys, NP_001274276.1:p.Glu306Lys, NP_001277332.1:p.Glu306Lys, XP_016857680.1:p.Glu306Lys, NP_001277335.1:p.Glu147Lys, XP_047285001.1:p.Glu365Lys, NP_001277333.1:p.Glu306Lys, XP_047285002.1:p.Glu365Lys, NP_001277334.1:p.Glu306Lys, XP_047285003.1:p.Glu147Lys

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