Canonical Allele Identifier: CA512318776
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1635529
ClinVar RCV Id: RCV002133501
dbSNP Id: rs2057889426
MyVariant Identifiers: chr21:g.36252987T>C (hg19)
ERepo: CA512318776/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880690T>C , CM000683.2:g.34880690T>C GRCh38
NC_000021.8:g.36252987T>C , CM000683.1:g.36252987T>C GRCh37
NC_000021.7:g.35174857T>C NCBI36
NG_011402.2:g.1109022A>G , LRG_482:g.1109022A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.375A>G MANE Select ENSP00000501943.1:p.Pro125=
ENST00000300305.7:c.375A>G ENSP00000300305.3:p.Pro125=
ENST00000344691.8:c.294A>G ENSP00000340690.4:p.Pro98=
ENST00000358356.9:c.294A>G ENSP00000351123.5:p.Pro98=
ENST00000399237.6:c.339A>G ENSP00000382182.2:p.Pro113=
ENST00000399240.5:c.294A>G ENSP00000382184.1:p.Pro98=
ENST00000437180.5:c.375A>G ENSP00000409227.1:p.Pro125=
ENST00000455571.5:c.336A>G ENSP00000388189.1:p.Pro112=
ENST00000482318.5:c.82A>G ENSP00000477067.1:p.Arg28Gly
NM_001001890.2:c.294A>G NP_001001890.1:p.Pro98=
NM_001122607.1:c.294A>G NP_001116079.1:p.Pro98=
NM_001754.4:c.375A>G , LRG_482t1:c.375A>G NP_001745.2:p.Pro125=
XM_005261068.3:c.339A>G XP_005261125.1:p.Pro113=
XM_005261069.3:c.375A>G XP_005261126.1:p.Pro125=
XM_011529766.1:c.375A>G XP_011528068.1:p.Pro125=
XM_011529767.1:c.336A>G XP_011528069.1:p.Pro112=
XM_011529768.1:c.336A>G XP_011528070.1:p.Pro112=
XM_011529770.1:c.375A>G XP_011528072.1:p.Pro125=
XR_937576.1:n.554A>G
XM_005261069.4:c.375A>G XP_005261126.1:p.Pro125=
XM_011529766.2:c.375A>G XP_011528068.1:p.Pro125=
XM_011529767.2:c.336A>G XP_011528069.1:p.Pro112=
XM_011529768.2:c.336A>G XP_011528070.1:p.Pro112=
XM_011529770.2:c.375A>G XP_011528072.1:p.Pro125=
XM_017028487.1:c.222A>G XP_016883976.1:p.Pro74=
XR_937576.2:n.601A>G
NM_001001890.3:c.294A>G NP_001001890.1:p.Pro98=
NM_001122607.2:c.294A>G NP_001116079.1:p.Pro98=
NM_001754.5:c.375A>G MANE Select NP_001745.2:p.Pro125=
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