Canonical Allele Identifier: CA512232098
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 463985
ClinVar RCV Id: RCV000551203 RCV001290704
dbSNP Id: rs1555884783
gnomAD v3: 21-34792138-G-A
gnomAD v4: 21-34792138-G-A
MyVariant Identifiers: chr21:g.36164435G>A (hg19) chr21:g.34792138G>A (hg38)
ERepo: CA512232098/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792138G>A , CM000683.2:g.34792138G>A GRCh38
NC_000021.8:g.36164435G>A , CM000683.1:g.36164435G>A GRCh37
NC_000021.7:g.35086305G>A NCBI36
NG_011402.2:g.1197574C>T , LRG_482:g.1197574C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1440C>T MANE Select ENSP00000501943.1:p.Tyr480=
ENST00000300305.7:c.1440C>T ENSP00000300305.3:p.Tyr480=
ENST00000344691.8:c.1359C>T ENSP00000340690.4:p.Tyr453=
ENST00000399240.5:c.1167C>T ENSP00000382184.1:p.Tyr389=
ENST00000437180.5:c.1440C>T ENSP00000409227.1:p.Tyr480=
ENST00000482318.5:c.*1030C>T ENSP00000477067.1:n.*1030C>T
NM_001001890.2:c.1359C>T NP_001001890.1:p.Tyr453=
NM_001754.4:c.1440C>T , LRG_482t1:c.1440C>T NP_001745.2:p.Tyr480=
XM_005261068.3:c.1404C>T XP_005261125.1:p.Tyr468=
XM_005261069.3:c.1248C>T XP_005261126.1:p.Tyr416=
XM_011529766.1:c.1440C>T XP_011528068.1:p.Tyr480=
XM_011529767.1:c.1401C>T XP_011528069.1:p.Tyr467=
XM_011529768.1:c.1209C>T XP_011528070.1:p.Tyr403=
XM_005261069.4:c.1248C>T XP_005261126.1:p.Tyr416=
XM_011529766.2:c.1440C>T XP_011528068.1:p.Tyr480=
XM_011529767.2:c.1401C>T XP_011528069.1:p.Tyr467=
XM_011529768.2:c.1209C>T XP_011528070.1:p.Tyr403=
XM_017028487.1:c.1287C>T XP_016883976.1:p.Tyr429=
NM_001001890.3:c.1359C>T NP_001001890.1:p.Tyr453=
NM_001754.5:c.1440C>T MANE Select NP_001745.2:p.Tyr480=
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