Canonical Allele Identifier: CA410202733
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1392067
ClinVar RCV Id: RCV001882093
dbSNP Id: rs2146363397
MyVariant Identifiers: chr21:g.36252982C>A (hg19) chr21:g.34880685C>A (hg38)
ERepo: CA410202733/MONDO:0011071/008
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880685C>A , CM000683.2:g.34880685C>A GRCh38
NC_000021.8:g.36252982C>A , CM000683.1:g.36252982C>A GRCh37
NC_000021.7:g.35174852C>A NCBI36
NG_011402.2:g.1109027G>T , LRG_482:g.1109027G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.380G>T MANE Select ENSP00000501943.1:p.Gly127Val
ENST00000300305.7:c.380G>T ENSP00000300305.3:p.Gly127Val
ENST00000344691.8:c.299G>T ENSP00000340690.4:p.Gly100Val
ENST00000358356.9:c.299G>T ENSP00000351123.5:p.Gly100Val
ENST00000399237.6:c.344G>T ENSP00000382182.2:p.Gly115Val
ENST00000399240.5:c.299G>T ENSP00000382184.1:p.Gly100Val
ENST00000437180.5:c.380G>T ENSP00000409227.1:p.Gly127Val
ENST00000455571.5:c.341G>T ENSP00000388189.1:p.Gly114Val
ENST00000482318.5:c.87G>T ENSP00000477067.1:p.Trp29Cys
NM_001001890.2:c.299G>T NP_001001890.1:p.Gly100Val
NM_001122607.1:c.299G>T NP_001116079.1:p.Gly100Val
NM_001754.4:c.380G>T , LRG_482t1:c.380G>T NP_001745.2:p.Gly127Val
XM_005261068.3:c.344G>T XP_005261125.1:p.Gly115Val
XM_005261069.3:c.380G>T XP_005261126.1:p.Gly127Val
XM_011529766.1:c.380G>T XP_011528068.1:p.Gly127Val
XM_011529767.1:c.341G>T XP_011528069.1:p.Gly114Val
XM_011529768.1:c.341G>T XP_011528070.1:p.Gly114Val
XM_011529770.1:c.380G>T XP_011528072.1:p.Gly127Val
XR_937576.1:n.559G>T
XM_005261069.4:c.380G>T XP_005261126.1:p.Gly127Val
XM_011529766.2:c.380G>T XP_011528068.1:p.Gly127Val
XM_011529767.2:c.341G>T XP_011528069.1:p.Gly114Val
XM_011529768.2:c.341G>T XP_011528070.1:p.Gly114Val
XM_011529770.2:c.380G>T XP_011528072.1:p.Gly127Val
XM_017028487.1:c.227G>T XP_016883976.1:p.Gly76Val
XR_937576.2:n.606G>T
NM_001001890.3:c.299G>T NP_001001890.1:p.Gly100Val
NM_001122607.2:c.299G>T NP_001116079.1:p.Gly100Val
NM_001754.5:c.380G>T MANE Select NP_001745.2:p.Gly127Val
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