Canonical Allele Identifier: CA320251476
Community Standard Title: NM_001754.5(RUNX1):c.1112T>C (p.Met371Thr)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792466A>G , CM000683.2:g.34792466A>G GRCh38
NC_000021.8:g.36164763A>G , CM000683.1:g.36164763A>G GRCh37
NC_000021.7:g.35086633A>G NCBI36
NG_011402.2:g.1197246T>C , LRG_482:g.1197246T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1112T>C MANE Select NP_001745.2:p.Met371Thr
ENST00000675419.1:c.1112T>C MANE Select ENSP00000501943.1:p.Met371Thr
NM_001001890.2:c.1031T>C NP_001001890.1:p.Met344Thr
NM_001001890.3:c.1031T>C NP_001001890.1:p.Met344Thr
NM_001754.4:c.1112T>C , LRG_482t1:c.1112T>C NP_001745.2:p.Met371Thr
ENST00000300305.7:c.1112T>C ENSP00000300305.3:p.Met371Thr
ENST00000344691.8:c.1031T>C ENSP00000340690.4:p.Met344Thr
ENST00000399240.5:c.839T>C ENSP00000382184.1:p.Met280Thr
ENST00000437180.5:c.1112T>C ENSP00000409227.1:p.Met371Thr
ENST00000482318.5:c.*702T>C ENSP00000477067.1:n.*702T>C
XM_005261068.3:c.1076T>C XP_005261125.1:p.Met359Thr
XM_005261069.3:c.920T>C XP_005261126.1:p.Met307Thr
XM_005261069.4:c.920T>C XP_005261126.1:p.Met307Thr
XM_011529766.1:c.1112T>C XP_011528068.1:p.Met371Thr
XM_011529766.2:c.1112T>C XP_011528068.1:p.Met371Thr
XM_011529767.1:c.1073T>C XP_011528069.1:p.Met358Thr
XM_011529767.2:c.1073T>C XP_011528069.1:p.Met358Thr
XM_011529768.1:c.881T>C XP_011528070.1:p.Met294Thr
XM_011529768.2:c.881T>C XP_011528070.1:p.Met294Thr
XM_017028487.1:c.959T>C XP_016883976.1:p.Met320Thr