Canonical Allele Identifier: CA10014174
Community Standard Title: NM_001754.5(RUNX1):c.1415T>C (p.Leu472Pro)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792163A>G , CM000683.2:g.34792163A>G GRCh38
NC_000021.8:g.36164460A>G , CM000683.1:g.36164460A>G GRCh37
NC_000021.7:g.35086330A>G NCBI36
NG_011402.2:g.1197549T>C , LRG_482:g.1197549T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1415T>C MANE Select NP_001745.2:p.Leu472Pro
ENST00000675419.1:c.1415T>C MANE Select ENSP00000501943.1:p.Leu472Pro
NM_001001890.2:c.1334T>C NP_001001890.1:p.Leu445Pro
NM_001001890.3:c.1334T>C NP_001001890.1:p.Leu445Pro
NM_001754.4:c.1415T>C , LRG_482t1:c.1415T>C NP_001745.2:p.Leu472Pro
ENST00000300305.7:c.1415T>C ENSP00000300305.3:p.Leu472Pro
ENST00000344691.8:c.1334T>C ENSP00000340690.4:p.Leu445Pro
ENST00000399240.5:c.1142T>C ENSP00000382184.1:p.Leu381Pro
ENST00000437180.5:c.1415T>C ENSP00000409227.1:p.Leu472Pro
ENST00000482318.5:c.*1005T>C ENSP00000477067.1:n.*1005T>C
XM_005261068.3:c.1379T>C XP_005261125.1:p.Leu460Pro
XM_005261069.3:c.1223T>C XP_005261126.1:p.Leu408Pro
XM_005261069.4:c.1223T>C XP_005261126.1:p.Leu408Pro
XM_011529766.1:c.1415T>C XP_011528068.1:p.Leu472Pro
XM_011529766.2:c.1415T>C XP_011528068.1:p.Leu472Pro
XM_011529767.1:c.1376T>C XP_011528069.1:p.Leu459Pro
XM_011529767.2:c.1376T>C XP_011528069.1:p.Leu459Pro
XM_011529768.1:c.1184T>C XP_011528070.1:p.Leu395Pro
XM_011529768.2:c.1184T>C XP_011528070.1:p.Leu395Pro
XM_017028487.1:c.1262T>C XP_016883976.1:p.Leu421Pro