Canonical Allele Identifier: CA410150112

Gene: RUNX1

Linked Data

• ClinVar Variation Id: 627152
• ClinVar RCV Id: RCV003448344
• dbSNP Id: rs121912499
• COSMIC: COSM5879698
• MyVariant Identifiers: chr21:g.36171704G>C (hg19) ; chr21:g.34799407G>C (hg38)
• ERepo: CA410150112/MONDO:0011071/008

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34799407G>C , CM000683.2:g.34799407G>C	GRCh38
NC_000021.8:g.36171704G>C , CM000683.1:g.36171704G>C	GRCh37
NC_000021.7:g.35093574G>C	NCBI36
NG_011402.2:g.1190305C>G , LRG_482:g.1190305C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675419.1:c.861C>G MANE Select	ENSP00000501943.1:p.Tyr287Ter
ENST00000300305.7:c.861C>G	ENSP00000300305.3:p.Tyr287Ter
ENST00000344691.8:c.780C>G	ENSP00000340690.4:p.Tyr260Ter
ENST00000399240.5:c.588C>G	ENSP00000382184.1:p.Tyr196Ter
ENST00000437180.5:c.861C>G	ENSP00000409227.1:p.Tyr287Ter
ENST00000482318.5:c.*451C>G	ENSP00000477067.1:n.*451C>G
NM_001001890.2:c.780C>G	NP_001001890.1:p.Tyr260Ter
NM_001754.4:c.861C>G , LRG_482t1:c.861C>G	NP_001745.2:p.Tyr287Ter
XM_005261068.3:c.825C>G	XP_005261125.1:p.Tyr275Ter
XM_005261069.3:c.669C>G	XP_005261126.1:p.Tyr223Ter
XM_011529766.1:c.861C>G	XP_011528068.1:p.Tyr287Ter
XM_011529767.1:c.822C>G	XP_011528069.1:p.Tyr274Ter
XM_011529768.1:c.630C>G	XP_011528070.1:p.Tyr210Ter
XR_937576.1:n.1040C>G
XM_005261069.4:c.669C>G	XP_005261126.1:p.Tyr223Ter
XM_011529766.2:c.861C>G	XP_011528068.1:p.Tyr287Ter
XM_011529767.2:c.822C>G	XP_011528069.1:p.Tyr274Ter
XM_011529768.2:c.630C>G	XP_011528070.1:p.Tyr210Ter
XM_017028487.1:c.708C>G	XP_016883976.1:p.Tyr236Ter
XR_937576.2:n.1087C>G
NM_001001890.3:c.780C>G	NP_001001890.1:p.Tyr260Ter
NM_001754.5:c.861C>G MANE Select	NP_001745.2:p.Tyr287Ter