Canonical Allele Identifier: CA512232133
Community Standard Title: NM_001754.5(RUNX1):c.1389C>T (p.Pro463=)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792189G>A , CM000683.2:g.34792189G>A GRCh38
NC_000021.8:g.36164486G>A , CM000683.1:g.36164486G>A GRCh37
NC_000021.7:g.35086356G>A NCBI36
NG_011402.2:g.1197523C>T , LRG_482:g.1197523C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1389C>T MANE Select NP_001745.2:p.Pro463=
ENST00000675419.1:c.1389C>T MANE Select ENSP00000501943.1:p.Pro463=
NM_001001890.2:c.1308C>T NP_001001890.1:p.Pro436=
NM_001001890.3:c.1308C>T NP_001001890.1:p.Pro436=
NM_001754.4:c.1389C>T , LRG_482t1:c.1389C>T NP_001745.2:p.Pro463=
ENST00000300305.7:c.1389C>T ENSP00000300305.3:p.Pro463=
ENST00000344691.8:c.1308C>T ENSP00000340690.4:p.Pro436=
ENST00000399240.5:c.1116C>T ENSP00000382184.1:p.Pro372=
ENST00000437180.5:c.1389C>T ENSP00000409227.1:p.Pro463=
ENST00000482318.5:c.*979C>T ENSP00000477067.1:n.*979C>T
XM_005261068.3:c.1353C>T XP_005261125.1:p.Pro451=
XM_005261069.3:c.1197C>T XP_005261126.1:p.Pro399=
XM_005261069.4:c.1197C>T XP_005261126.1:p.Pro399=
XM_011529766.1:c.1389C>T XP_011528068.1:p.Pro463=
XM_011529766.2:c.1389C>T XP_011528068.1:p.Pro463=
XM_011529767.1:c.1350C>T XP_011528069.1:p.Pro450=
XM_011529767.2:c.1350C>T XP_011528069.1:p.Pro450=
XM_011529768.1:c.1158C>T XP_011528070.1:p.Pro386=
XM_011529768.2:c.1158C>T XP_011528070.1:p.Pro386=
XM_017028487.1:c.1236C>T XP_016883976.1:p.Pro412=