Canonical Allele Identifier: CA410202720
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs1569079205
MyVariant Identifiers: chr21:g.36252974C>G (hg19) chr21:g.34880677C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880677C>G , CM000683.2:g.34880677C>G GRCh38
NC_000021.8:g.36252974C>G , CM000683.1:g.36252974C>G GRCh37
NC_000021.7:g.35174844C>G NCBI36
NG_011402.2:g.1109035G>C , LRG_482:g.1109035G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.388G>C MANE Select ENSP00000501943.1:p.Val130Leu
ENST00000300305.7:c.388G>C ENSP00000300305.3:p.Val130Leu
ENST00000344691.8:c.307G>C ENSP00000340690.4:p.Val103Leu
ENST00000358356.9:c.307G>C ENSP00000351123.5:p.Val103Leu
ENST00000399237.6:c.352G>C ENSP00000382182.2:p.Val118Leu
ENST00000399240.5:c.307G>C ENSP00000382184.1:p.Val103Leu
ENST00000437180.5:c.388G>C ENSP00000409227.1:p.Val130Leu
ENST00000455571.5:c.349G>C ENSP00000388189.1:p.Val117Leu
ENST00000482318.5:c.95G>C ENSP00000477067.1:p.Gly32Ala
NM_001001890.2:c.307G>C NP_001001890.1:p.Val103Leu
NM_001122607.1:c.307G>C NP_001116079.1:p.Val103Leu
NM_001754.4:c.388G>C , LRG_482t1:c.388G>C NP_001745.2:p.Val130Leu
XM_005261068.3:c.352G>C XP_005261125.1:p.Val118Leu
XM_005261069.3:c.388G>C XP_005261126.1:p.Val130Leu
XM_011529766.1:c.388G>C XP_011528068.1:p.Val130Leu
XM_011529767.1:c.349G>C XP_011528069.1:p.Val117Leu
XM_011529768.1:c.349G>C XP_011528070.1:p.Val117Leu
XM_011529770.1:c.388G>C XP_011528072.1:p.Val130Leu
XR_937576.1:n.567G>C
XM_005261069.4:c.388G>C XP_005261126.1:p.Val130Leu
XM_011529766.2:c.388G>C XP_011528068.1:p.Val130Leu
XM_011529767.2:c.349G>C XP_011528069.1:p.Val117Leu
XM_011529768.2:c.349G>C XP_011528070.1:p.Val117Leu
XM_011529770.2:c.388G>C XP_011528072.1:p.Val130Leu
XM_017028487.1:c.235G>C XP_016883976.1:p.Val79Leu
XR_937576.2:n.614G>C
NM_001001890.3:c.307G>C NP_001001890.1:p.Val103Leu
NM_001122607.2:c.307G>C NP_001116079.1:p.Val103Leu
NM_001754.5:c.388G>C MANE Select NP_001745.2:p.Val130Leu
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