Canonical Allele Identifier: CA10014267
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 239057
dbSNP Id: rs59802347

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799341G>A , CM000683.2:g.34799341G>A GRCh38
NC_000021.8:g.36171638G>A , CM000683.1:g.36171638G>A GRCh37
NC_000021.7:g.35093508G>A NCBI36
NG_011402.2:g.1190371C>T , LRG_482:g.1190371C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.927C>T MANE Select ENSP00000501943.1:p.Gly309=
ENST00000300305.7:c.927C>T ENSP00000300305.3:p.Gly309=
ENST00000344691.8:c.846C>T ENSP00000340690.4:p.Gly282=
ENST00000399240.5:c.654C>T ENSP00000382184.1:p.Gly218=
ENST00000437180.5:c.927C>T ENSP00000409227.1:p.Gly309=
ENST00000482318.5:c.*517C>T ENSP00000477067.1:n.*517C>T
NM_001001890.2:c.846C>T NP_001001890.1:p.Gly282=
NM_001754.4:c.927C>T , LRG_482t1:c.927C>T NP_001745.2:p.Gly309=
XM_005261068.3:c.891C>T XP_005261125.1:p.Gly297=
XM_005261069.3:c.735C>T XP_005261126.1:p.Gly245=
XM_011529766.1:c.927C>T XP_011528068.1:p.Gly309=
XM_011529767.1:c.888C>T XP_011528069.1:p.Gly296=
XM_011529768.1:c.696C>T XP_011528070.1:p.Gly232=
XR_937576.1:n.1106C>T
XM_005261069.4:c.735C>T XP_005261126.1:p.Gly245=
XM_011529766.2:c.927C>T XP_011528068.1:p.Gly309=
XM_011529767.2:c.888C>T XP_011528069.1:p.Gly296=
XM_011529768.2:c.696C>T XP_011528070.1:p.Gly232=
XM_017028487.1:c.774C>T XP_016883976.1:p.Gly258=
XR_937576.2:n.1153C>T
NM_001001890.3:c.846C>T NP_001001890.1:p.Gly282=
NM_001754.5:c.927C>T MANE Select NP_001745.2:p.Gly309=