Canonical Allele Identifier: CA410149662
Community Standard Title: NM_001754.5(RUNX1):c.917G>C (p.Arg306Pro)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799351C>G , CM000683.2:g.34799351C>G GRCh38
NC_000021.8:g.36171648C>G , CM000683.1:g.36171648C>G GRCh37
NC_000021.7:g.35093518C>G NCBI36
NG_011402.2:g.1190361G>C , LRG_482:g.1190361G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.917G>C MANE Select NP_001745.2:p.Arg306Pro
ENST00000675419.1:c.917G>C MANE Select ENSP00000501943.1:p.Arg306Pro
NM_001001890.2:c.836G>C NP_001001890.1:p.Arg279Pro
NM_001001890.3:c.836G>C NP_001001890.1:p.Arg279Pro
NM_001754.4:c.917G>C , LRG_482t1:c.917G>C NP_001745.2:p.Arg306Pro
ENST00000300305.7:c.917G>C ENSP00000300305.3:p.Arg306Pro
ENST00000344691.8:c.836G>C ENSP00000340690.4:p.Arg279Pro
ENST00000399240.5:c.644G>C ENSP00000382184.1:p.Arg215Pro
ENST00000437180.5:c.917G>C ENSP00000409227.1:p.Arg306Pro
ENST00000482318.5:c.*507G>C ENSP00000477067.1:n.*507G>C
XM_005261068.3:c.881G>C XP_005261125.1:p.Arg294Pro
XM_005261069.3:c.725G>C XP_005261126.1:p.Arg242Pro
XM_005261069.4:c.725G>C XP_005261126.1:p.Arg242Pro
XM_011529766.1:c.917G>C XP_011528068.1:p.Arg306Pro
XM_011529766.2:c.917G>C XP_011528068.1:p.Arg306Pro
XM_011529767.1:c.878G>C XP_011528069.1:p.Arg293Pro
XM_011529767.2:c.878G>C XP_011528069.1:p.Arg293Pro
XM_011529768.1:c.686G>C XP_011528070.1:p.Arg229Pro
XM_011529768.2:c.686G>C XP_011528070.1:p.Arg229Pro
XM_017028487.1:c.764G>C XP_016883976.1:p.Arg255Pro
XR_937576.1:n.1096G>C
XR_937576.2:n.1143G>C