Canonical Allele Identifier: CA410207960
Community Standard Title: NM_001754.5(RUNX1):c.599C>A (p.Pro200His)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34859488G>T , CM000683.2:g.34859488G>T GRCh38
NC_000021.8:g.36231785G>T , CM000683.1:g.36231785G>T GRCh37
NC_000021.7:g.35153655G>T NCBI36
NG_011402.2:g.1130224C>A , LRG_482:g.1130224C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.599C>A MANE Select NP_001745.2:p.Pro200His
ENST00000675419.1:c.599C>A MANE Select ENSP00000501943.1:p.Pro200His
NM_001001890.2:c.518C>A NP_001001890.1:p.Pro173His
NM_001001890.3:c.518C>A NP_001001890.1:p.Pro173His
NM_001122607.1:c.518C>A NP_001116079.1:p.Pro173His
NM_001122607.2:c.518C>A NP_001116079.1:p.Pro173His
NM_001754.4:c.599C>A , LRG_482t1:c.599C>A NP_001745.2:p.Pro200His
ENST00000300305.7:c.599C>A ENSP00000300305.3:p.Pro200His
ENST00000344691.8:c.518C>A ENSP00000340690.4:p.Pro173His
ENST00000358356.9:c.518C>A ENSP00000351123.5:p.Pro173His
ENST00000399237.6:c.563C>A ENSP00000382182.2:p.Pro188His
ENST00000399240.5:c.518C>A ENSP00000382184.1:p.Pro173His
ENST00000437180.5:c.599C>A ENSP00000409227.1:p.Pro200His
ENST00000467577.1:n.91C>A
ENST00000482318.5:c.*189C>A ENSP00000477067.1:n.*189C>A
XM_005261068.3:c.563C>A XP_005261125.1:p.Pro188His
XM_005261069.3:c.599C>A XP_005261126.1:p.Pro200His
XM_005261069.4:c.599C>A XP_005261126.1:p.Pro200His
XM_011529766.1:c.599C>A XP_011528068.1:p.Pro200His
XM_011529766.2:c.599C>A XP_011528068.1:p.Pro200His
XM_011529767.1:c.560C>A XP_011528069.1:p.Pro187His
XM_011529767.2:c.560C>A XP_011528069.1:p.Pro187His
XM_011529768.1:c.560C>A XP_011528070.1:p.Pro187His
XM_011529768.2:c.560C>A XP_011528070.1:p.Pro187His
XM_011529770.1:c.599C>A XP_011528072.1:p.Pro200His
XM_011529770.2:c.599C>A XP_011528072.1:p.Pro200His
XM_017028487.1:c.446C>A XP_016883976.1:p.Pro149His
XR_937576.1:n.778C>A
XR_937576.2:n.825C>A