Canonical Allele Identifier: CA410202761
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 967043
ClinVar RCV Id: RCV001241858
dbSNP Id: rs2057889754
MyVariant Identifiers: chr21:g.36252994T>C (hg19) chr21:g.34880697T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880697T>C , CM000683.2:g.34880697T>C GRCh38
NC_000021.8:g.36252994T>C , CM000683.1:g.36252994T>C GRCh37
NC_000021.7:g.35174864T>C NCBI36
NG_011402.2:g.1109015A>G , LRG_482:g.1109015A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.368A>G MANE Select ENSP00000501943.1:p.Asp123Gly
ENST00000300305.7:c.368A>G ENSP00000300305.3:p.Asp123Gly
ENST00000344691.8:c.287A>G ENSP00000340690.4:p.Asp96Gly
ENST00000358356.9:c.287A>G ENSP00000351123.5:p.Asp96Gly
ENST00000399237.6:c.332A>G ENSP00000382182.2:p.Asp111Gly
ENST00000399240.5:c.287A>G ENSP00000382184.1:p.Asp96Gly
ENST00000437180.5:c.368A>G ENSP00000409227.1:p.Asp123Gly
ENST00000455571.5:c.329A>G ENSP00000388189.1:p.Asp110Gly
ENST00000482318.5:c.75A>G ENSP00000477067.1:p.Gly25=
NM_001001890.2:c.287A>G NP_001001890.1:p.Asp96Gly
NM_001122607.1:c.287A>G NP_001116079.1:p.Asp96Gly
NM_001754.4:c.368A>G , LRG_482t1:c.368A>G NP_001745.2:p.Asp123Gly
XM_005261068.3:c.332A>G XP_005261125.1:p.Asp111Gly
XM_005261069.3:c.368A>G XP_005261126.1:p.Asp123Gly
XM_011529766.1:c.368A>G XP_011528068.1:p.Asp123Gly
XM_011529767.1:c.329A>G XP_011528069.1:p.Asp110Gly
XM_011529768.1:c.329A>G XP_011528070.1:p.Asp110Gly
XM_011529770.1:c.368A>G XP_011528072.1:p.Asp123Gly
XR_937576.1:n.547A>G
XM_005261069.4:c.368A>G XP_005261126.1:p.Asp123Gly
XM_011529766.2:c.368A>G XP_011528068.1:p.Asp123Gly
XM_011529767.2:c.329A>G XP_011528069.1:p.Asp110Gly
XM_011529768.2:c.329A>G XP_011528070.1:p.Asp110Gly
XM_011529770.2:c.368A>G XP_011528072.1:p.Asp123Gly
XM_017028487.1:c.215A>G XP_016883976.1:p.Asp72Gly
XR_937576.2:n.594A>G
NM_001001890.3:c.287A>G NP_001001890.1:p.Asp96Gly
NM_001122607.2:c.287A>G NP_001116079.1:p.Asp96Gly
NM_001754.5:c.368A>G MANE Select NP_001745.2:p.Asp123Gly
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