Canonical Allele Identifier: CA10014230
Community Standard Title: NM_001754.5(RUNX1):c.973C>T (p.Pro325Ser)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792605G>A , CM000683.2:g.34792605G>A GRCh38
NC_000021.8:g.36164902G>A , CM000683.1:g.36164902G>A GRCh37
NC_000021.7:g.35086772G>A NCBI36
NG_011402.2:g.1197107C>T , LRG_482:g.1197107C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.973C>T MANE Select NP_001745.2:p.Pro325Ser
ENST00000675419.1:c.973C>T MANE Select ENSP00000501943.1:p.Pro325Ser
NM_001001890.2:c.892C>T NP_001001890.1:p.Pro298Ser
NM_001001890.3:c.892C>T NP_001001890.1:p.Pro298Ser
NM_001754.4:c.973C>T , LRG_482t1:c.973C>T NP_001745.2:p.Pro325Ser
ENST00000300305.7:c.973C>T ENSP00000300305.3:p.Pro325Ser
ENST00000344691.8:c.892C>T ENSP00000340690.4:p.Pro298Ser
ENST00000399240.5:c.700C>T ENSP00000382184.1:p.Pro234Ser
ENST00000437180.5:c.973C>T ENSP00000409227.1:p.Pro325Ser
ENST00000482318.5:c.*563C>T ENSP00000477067.1:n.*563C>T
XM_005261068.3:c.937C>T XP_005261125.1:p.Pro313Ser
XM_005261069.3:c.781C>T XP_005261126.1:p.Pro261Ser
XM_005261069.4:c.781C>T XP_005261126.1:p.Pro261Ser
XM_011529766.1:c.973C>T XP_011528068.1:p.Pro325Ser
XM_011529766.2:c.973C>T XP_011528068.1:p.Pro325Ser
XM_011529767.1:c.934C>T XP_011528069.1:p.Pro312Ser
XM_011529767.2:c.934C>T XP_011528069.1:p.Pro312Ser
XM_011529768.1:c.742C>T XP_011528070.1:p.Pro248Ser
XM_011529768.2:c.742C>T XP_011528070.1:p.Pro248Ser
XM_017028487.1:c.820C>T XP_016883976.1:p.Pro274Ser
XR_937576.1:n.4577C>T
XR_937576.2:n.4624C>T