Canonical Allele Identifier: CA10014218
Community Standard Title: NM_001754.5(RUNX1):c.1034C>G (p.Pro345Arg)
Gene: RUNX1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792544G>C , CM000683.2:g.34792544G>C GRCh38
NC_000021.8:g.36164841G>C , CM000683.1:g.36164841G>C GRCh37
NC_000021.7:g.35086711G>C NCBI36
NG_011402.2:g.1197168C>G , LRG_482:g.1197168C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1034C>G MANE Select NP_001745.2:p.Pro345Arg
ENST00000675419.1:c.1034C>G MANE Select ENSP00000501943.1:p.Pro345Arg
NM_001001890.2:c.953C>G NP_001001890.1:p.Pro318Arg
NM_001001890.3:c.953C>G NP_001001890.1:p.Pro318Arg
NM_001754.4:c.1034C>G , LRG_482t1:c.1034C>G NP_001745.2:p.Pro345Arg
ENST00000300305.7:c.1034C>G ENSP00000300305.3:p.Pro345Arg
ENST00000344691.8:c.953C>G ENSP00000340690.4:p.Pro318Arg
ENST00000399240.5:c.761C>G ENSP00000382184.1:p.Pro254Arg
ENST00000437180.5:c.1034C>G ENSP00000409227.1:p.Pro345Arg
ENST00000482318.5:c.*624C>G ENSP00000477067.1:n.*624C>G
XM_005261068.3:c.998C>G XP_005261125.1:p.Pro333Arg
XM_005261069.3:c.842C>G XP_005261126.1:p.Pro281Arg
XM_005261069.4:c.842C>G XP_005261126.1:p.Pro281Arg
XM_011529766.1:c.1034C>G XP_011528068.1:p.Pro345Arg
XM_011529766.2:c.1034C>G XP_011528068.1:p.Pro345Arg
XM_011529767.1:c.995C>G XP_011528069.1:p.Pro332Arg
XM_011529767.2:c.995C>G XP_011528069.1:p.Pro332Arg
XM_011529768.1:c.803C>G XP_011528070.1:p.Pro268Arg
XM_011529768.2:c.803C>G XP_011528070.1:p.Pro268Arg
XM_017028487.1:c.881C>G XP_016883976.1:p.Pro294Arg
XR_937576.1:n.4638C>G
XR_937576.2:n.4685C>G
Search 100 bp 5'
Search 100 bp 3'