Canonical Allele Identifier: CA10653554
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 339822
ClinVar RCV Id: RCV000278568
dbSNP Id: rs74950917

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34789367T>G , CM000683.2:g.34789367T>G GRCh38
NC_000021.8:g.36161664T>G , CM000683.1:g.36161664T>G GRCh37
NC_000021.7:g.35083534T>G NCBI36
NG_011402.2:g.1200345A>C , LRG_482:g.1200345A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.*2768A>C MANE Select ENSP00000501943.1:n.*2768A>C
ENST00000300305.7:c.*2768A>C ENSP00000300305.3:n.*2768A>C
ENST00000344691.8:c.*2768A>C ENSP00000340690.4:n.*2768A>C
ENST00000437180.5:c.*2768A>C ENSP00000409227.1:n.*2768A>C
NM_001001890.2:c.*2768A>C NP_001001890.1:n.*2768A>C
NM_001754.4:c.*2768A>C , LRG_482t1:c.*2768A>C NP_001745.2:n.*2768A>C
XM_005261068.3:c.*2768A>C XP_005261125.1:n.*2768A>C
XM_005261069.3:c.*2768A>C XP_005261126.1:n.*2768A>C
XM_011529766.1:c.*2768A>C XP_011528068.1:n.*2768A>C
XM_011529767.1:c.*2768A>C XP_011528069.1:n.*2768A>C
XM_011529768.1:c.*2768A>C XP_011528070.1:n.*2768A>C
XM_005261069.4:c.*2768A>C XP_005261126.1:n.*2768A>C
XM_011529766.2:c.*2768A>C XP_011528068.1:n.*2768A>C
XM_011529767.2:c.*2768A>C XP_011528069.1:n.*2768A>C
XM_011529768.2:c.*2768A>C XP_011528070.1:n.*2768A>C
XM_017028487.1:c.*2768A>C XP_016883976.1:n.*2768A>C
NM_001001890.3:c.*2768A>C NP_001001890.1:n.*2768A>C
NM_001754.5:c.*2768A>C MANE Select NP_001745.2:n.*2768A>C