Canonical Allele Identifier: CA410207974
Community Standard Title: NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34859494T>G , CM000683.2:g.34859494T>G GRCh38
NC_000021.8:g.36231791T>G , CM000683.1:g.36231791T>G GRCh37
NC_000021.7:g.35153661T>G NCBI36
NG_011402.2:g.1130218A>C , LRG_482:g.1130218A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.593A>C MANE Select NP_001745.2:p.Asp198Ala
ENST00000675419.1:c.593A>C MANE Select ENSP00000501943.1:p.Asp198Ala
NM_001001890.2:c.512A>C NP_001001890.1:p.Asp171Ala
NM_001001890.3:c.512A>C NP_001001890.1:p.Asp171Ala
NM_001122607.1:c.512A>C NP_001116079.1:p.Asp171Ala
NM_001122607.2:c.512A>C NP_001116079.1:p.Asp171Ala
NM_001754.4:c.593A>C , LRG_482t1:c.593A>C NP_001745.2:p.Asp198Ala
ENST00000300305.7:c.593A>C ENSP00000300305.3:p.Asp198Ala
ENST00000344691.8:c.512A>C ENSP00000340690.4:p.Asp171Ala
ENST00000358356.9:c.512A>C ENSP00000351123.5:p.Asp171Ala
ENST00000399237.6:c.557A>C ENSP00000382182.2:p.Asp186Ala
ENST00000399240.5:c.512A>C ENSP00000382184.1:p.Asp171Ala
ENST00000437180.5:c.593A>C ENSP00000409227.1:p.Asp198Ala
ENST00000467577.1:n.85A>C
ENST00000482318.5:c.*183A>C ENSP00000477067.1:n.*183A>C
XM_005261068.3:c.557A>C XP_005261125.1:p.Asp186Ala
XM_005261069.3:c.593A>C XP_005261126.1:p.Asp198Ala
XM_005261069.4:c.593A>C XP_005261126.1:p.Asp198Ala
XM_011529766.1:c.593A>C XP_011528068.1:p.Asp198Ala
XM_011529766.2:c.593A>C XP_011528068.1:p.Asp198Ala
XM_011529767.1:c.554A>C XP_011528069.1:p.Asp185Ala
XM_011529767.2:c.554A>C XP_011528069.1:p.Asp185Ala
XM_011529768.1:c.554A>C XP_011528070.1:p.Asp185Ala
XM_011529768.2:c.554A>C XP_011528070.1:p.Asp185Ala
XM_011529770.1:c.593A>C XP_011528072.1:p.Asp198Ala
XM_011529770.2:c.593A>C XP_011528072.1:p.Asp198Ala
XM_017028487.1:c.440A>C XP_016883976.1:p.Asp147Ala
XR_937576.1:n.772A>C
XR_937576.2:n.819A>C