Canonical Allele Identifier: CA410206855
Community Standard Title: NM_001754.5(RUNX1):c.708G>A (p.Met236Ile)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34834507C>T , CM000683.2:g.34834507C>T GRCh38
NC_000021.8:g.36206804C>T , CM000683.1:g.36206804C>T GRCh37
NC_000021.7:g.35128674C>T NCBI36
NG_011402.2:g.1155205G>A , LRG_482:g.1155205G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.708G>A MANE Select NP_001745.2:p.Met236Ile
ENST00000675419.1:c.708G>A MANE Select ENSP00000501943.1:p.Met236Ile
NM_001001890.2:c.627G>A NP_001001890.1:p.Met209Ile
NM_001001890.3:c.627G>A NP_001001890.1:p.Met209Ile
NM_001122607.1:c.627G>A NP_001116079.1:p.Met209Ile
NM_001122607.2:c.627G>A NP_001116079.1:p.Met209Ile
NM_001754.4:c.708G>A , LRG_482t1:c.708G>A NP_001745.2:p.Met236Ile
ENST00000300305.7:c.708G>A ENSP00000300305.3:p.Met236Ile
ENST00000344691.8:c.627G>A ENSP00000340690.4:p.Met209Ile
ENST00000358356.9:c.627G>A ENSP00000351123.5:p.Met209Ile
ENST00000399237.6:c.672G>A ENSP00000382182.2:p.Met224Ile
ENST00000399240.5:c.532+24967G>A ENSP00000382184.1:n.532+24967G>A
ENST00000437180.5:c.708G>A ENSP00000409227.1:p.Met236Ile
ENST00000469087.1:n.244G>A
ENST00000482318.5:c.*298G>A ENSP00000477067.1:n.*298G>A
XM_005261068.3:c.672G>A XP_005261125.1:p.Met224Ile
XM_005261069.3:c.613+24967G>A XP_005261126.1:n.613+24967G>A
XM_005261069.4:c.613+24967G>A XP_005261126.1:n.613+24967G>A
XM_011529766.1:c.708G>A XP_011528068.1:p.Met236Ile
XM_011529766.2:c.708G>A XP_011528068.1:p.Met236Ile
XM_011529767.1:c.669G>A XP_011528069.1:p.Met223Ile
XM_011529767.2:c.669G>A XP_011528069.1:p.Met223Ile
XM_011529768.1:c.574+24967G>A XP_011528070.1:n.574+24967G>A
XM_011529768.2:c.574+24967G>A XP_011528070.1:n.574+24967G>A
XM_011529770.1:c.708G>A XP_011528072.1:p.Met236Ile
XM_011529770.2:c.708G>A XP_011528072.1:p.Met236Ile
XM_017028487.1:c.555G>A XP_016883976.1:p.Met185Ile
XR_937576.1:n.887G>A
XR_937576.2:n.934G>A