Canonical Allele Identifier: CA410203798

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 1432362
• ClinVar RCV Id: RCV001981999
• dbSNP Id: rs121912500
• MyVariant Identifiers: chr21:g.36259238G>A (hg19) ; chr21:g.34886941G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34886941G>A , CM000683.2:g.34886941G>A	GRCh38
NC_000021.8:g.36259238G>A , CM000683.1:g.36259238G>A	GRCh37
NC_000021.7:g.35181108G>A	NCBI36
NG_011402.2:g.1102771C>T , LRG_482:g.1102771C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.253C>T MANE Select	ENSP00000501943.1:p.His85Tyr
ENST00000300305.7:c.253C>T	ENSP00000300305.3:p.His85Tyr
ENST00000344691.8:c.172C>T	ENSP00000340690.4:p.His58Tyr
ENST00000358356.9:c.172C>T	ENSP00000351123.5:p.His58Tyr
ENST00000399237.6:c.217C>T	ENSP00000382182.2:p.His73Tyr
ENST00000399240.5:c.172C>T	ENSP00000382184.1:p.His58Tyr
ENST00000437180.5:c.253C>T	ENSP00000409227.1:p.His85Tyr
ENST00000455571.5:c.214C>T	ENSP00000388189.1:p.His72Tyr
ENST00000482318.5:c.59-6228C>T	ENSP00000477067.1:n.59-6228C>T
NM_001001890.2:c.172C>T	NP_001001890.1:p.His58Tyr
NM_001122607.1:c.172C>T	NP_001116079.1:p.His58Tyr
NM_001754.4:c.253C>T , LRG_482t1:c.253C>T	NP_001745.2:p.His85Tyr
XM_005261068.3:c.217C>T	XP_005261125.1:p.His73Tyr
XM_005261069.3:c.253C>T	XP_005261126.1:p.His85Tyr
XM_011529766.1:c.253C>T	XP_011528068.1:p.His85Tyr
XM_011529767.1:c.214C>T	XP_011528069.1:p.His72Tyr
XM_011529768.1:c.214C>T	XP_011528070.1:p.His72Tyr
XM_011529770.1:c.253C>T	XP_011528072.1:p.His85Tyr
XR_937576.1:n.432C>T
XM_005261069.4:c.253C>T	XP_005261126.1:p.His85Tyr
XM_011529766.2:c.253C>T	XP_011528068.1:p.His85Tyr
XM_011529767.2:c.214C>T	XP_011528069.1:p.His72Tyr
XM_011529768.2:c.214C>T	XP_011528070.1:p.His72Tyr
XM_011529770.2:c.253C>T	XP_011528072.1:p.His85Tyr
XM_017028487.1:c.100C>T	XP_016883976.1:p.His34Tyr
XR_937576.2:n.479C>T
NM_001001890.3:c.172C>T	NP_001001890.1:p.His58Tyr
NM_001122607.2:c.172C>T	NP_001116079.1:p.His58Tyr
NM_001754.5:c.253C>T MANE Select	NP_001745.2:p.His85Tyr