Canonical Allele Identifier: CA16616503
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409816
ClinVar RCV Id: RCV000469722
dbSNP Id: rs868387185

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792191G>A , CM000683.2:g.34792191G>A GRCh38
NC_000021.8:g.36164488G>A , CM000683.1:g.36164488G>A GRCh37
NC_000021.7:g.35086358G>A NCBI36
NG_011402.2:g.1197521C>T , LRG_482:g.1197521C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1387C>T MANE Select ENSP00000501943.1:p.Pro463Ser
ENST00000300305.7:c.1387C>T ENSP00000300305.3:p.Pro463Ser
ENST00000344691.8:c.1306C>T ENSP00000340690.4:p.Pro436Ser
ENST00000399240.5:c.1114C>T ENSP00000382184.1:p.Pro372Ser
ENST00000437180.5:c.1387C>T ENSP00000409227.1:p.Pro463Ser
ENST00000482318.5:c.*977C>T ENSP00000477067.1:n.*977C>T
NM_001001890.2:c.1306C>T NP_001001890.1:p.Pro436Ser
NM_001754.4:c.1387C>T , LRG_482t1:c.1387C>T NP_001745.2:p.Pro463Ser
XM_005261068.3:c.1351C>T XP_005261125.1:p.Pro451Ser
XM_005261069.3:c.1195C>T XP_005261126.1:p.Pro399Ser
XM_011529766.1:c.1387C>T XP_011528068.1:p.Pro463Ser
XM_011529767.1:c.1348C>T XP_011528069.1:p.Pro450Ser
XM_011529768.1:c.1156C>T XP_011528070.1:p.Pro386Ser
XM_005261069.4:c.1195C>T XP_005261126.1:p.Pro399Ser
XM_011529766.2:c.1387C>T XP_011528068.1:p.Pro463Ser
XM_011529767.2:c.1348C>T XP_011528069.1:p.Pro450Ser
XM_011529768.2:c.1156C>T XP_011528070.1:p.Pro386Ser
XM_017028487.1:c.1234C>T XP_016883976.1:p.Pro412Ser
NM_001001890.3:c.1306C>T NP_001001890.1:p.Pro436Ser
NM_001754.5:c.1387C>T MANE Select NP_001745.2:p.Pro463Ser