Canonical Allele Identifier: CA10014276
Community Standard Title: NM_001754.5(RUNX1):c.882T>C (p.Pro294=)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799386A>G , CM000683.2:g.34799386A>G GRCh38
NC_000021.8:g.36171683A>G , CM000683.1:g.36171683A>G GRCh37
NC_000021.7:g.35093553A>G NCBI36
NG_011402.2:g.1190326T>C , LRG_482:g.1190326T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.882T>C MANE Select NP_001745.2:p.Pro294=
ENST00000675419.1:c.882T>C MANE Select ENSP00000501943.1:p.Pro294=
NM_001001890.2:c.801T>C NP_001001890.1:p.Pro267=
NM_001001890.3:c.801T>C NP_001001890.1:p.Pro267=
NM_001754.4:c.882T>C , LRG_482t1:c.882T>C NP_001745.2:p.Pro294=
ENST00000300305.7:c.882T>C ENSP00000300305.3:p.Pro294=
ENST00000344691.8:c.801T>C ENSP00000340690.4:p.Pro267=
ENST00000399240.5:c.609T>C ENSP00000382184.1:p.Pro203=
ENST00000437180.5:c.882T>C ENSP00000409227.1:p.Pro294=
ENST00000482318.5:c.*472T>C ENSP00000477067.1:n.*472T>C
XM_005261068.3:c.846T>C XP_005261125.1:p.Pro282=
XM_005261069.3:c.690T>C XP_005261126.1:p.Pro230=
XM_005261069.4:c.690T>C XP_005261126.1:p.Pro230=
XM_011529766.1:c.882T>C XP_011528068.1:p.Pro294=
XM_011529766.2:c.882T>C XP_011528068.1:p.Pro294=
XM_011529767.1:c.843T>C XP_011528069.1:p.Pro281=
XM_011529767.2:c.843T>C XP_011528069.1:p.Pro281=
XM_011529768.1:c.651T>C XP_011528070.1:p.Pro217=
XM_011529768.2:c.651T>C XP_011528070.1:p.Pro217=
XM_017028487.1:c.729T>C XP_016883976.1:p.Pro243=
XR_937576.1:n.1061T>C
XR_937576.2:n.1108T>C