Canonical Allele Identifier: CA410207961
Community Standard Title: NM_001754.5(RUNX1):c.598C>T (p.Pro200Ser)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34859489G>A , CM000683.2:g.34859489G>A GRCh38
NC_000021.8:g.36231786G>A , CM000683.1:g.36231786G>A GRCh37
NC_000021.7:g.35153656G>A NCBI36
NG_011402.2:g.1130223C>T , LRG_482:g.1130223C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.598C>T MANE Select NP_001745.2:p.Pro200Ser
ENST00000675419.1:c.598C>T MANE Select ENSP00000501943.1:p.Pro200Ser
NM_001001890.2:c.517C>T NP_001001890.1:p.Pro173Ser
NM_001001890.3:c.517C>T NP_001001890.1:p.Pro173Ser
NM_001122607.1:c.517C>T NP_001116079.1:p.Pro173Ser
NM_001122607.2:c.517C>T NP_001116079.1:p.Pro173Ser
NM_001754.4:c.598C>T , LRG_482t1:c.598C>T NP_001745.2:p.Pro200Ser
ENST00000300305.7:c.598C>T ENSP00000300305.3:p.Pro200Ser
ENST00000344691.8:c.517C>T ENSP00000340690.4:p.Pro173Ser
ENST00000358356.9:c.517C>T ENSP00000351123.5:p.Pro173Ser
ENST00000399237.6:c.562C>T ENSP00000382182.2:p.Pro188Ser
ENST00000399240.5:c.517C>T ENSP00000382184.1:p.Pro173Ser
ENST00000437180.5:c.598C>T ENSP00000409227.1:p.Pro200Ser
ENST00000467577.1:n.90C>T
ENST00000482318.5:c.*188C>T ENSP00000477067.1:n.*188C>T
XM_005261068.3:c.562C>T XP_005261125.1:p.Pro188Ser
XM_005261069.3:c.598C>T XP_005261126.1:p.Pro200Ser
XM_005261069.4:c.598C>T XP_005261126.1:p.Pro200Ser
XM_011529766.1:c.598C>T XP_011528068.1:p.Pro200Ser
XM_011529766.2:c.598C>T XP_011528068.1:p.Pro200Ser
XM_011529767.1:c.559C>T XP_011528069.1:p.Pro187Ser
XM_011529767.2:c.559C>T XP_011528069.1:p.Pro187Ser
XM_011529768.1:c.559C>T XP_011528070.1:p.Pro187Ser
XM_011529768.2:c.559C>T XP_011528070.1:p.Pro187Ser
XM_011529770.1:c.598C>T XP_011528072.1:p.Pro200Ser
XM_011529770.2:c.598C>T XP_011528072.1:p.Pro200Ser
XM_017028487.1:c.445C>T XP_016883976.1:p.Pro149Ser
XR_937576.1:n.777C>T
XR_937576.2:n.824C>T