Canonical Allele Identifier: CA410204213
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2852638
ClinVar RCV Id: RCV003630911
MyVariant Identifiers: chr21:g.36259360G>C (hg19) chr21:g.34887063G>C (hg38)
ERepo: CA410204213/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887063G>C , CM000683.2:g.34887063G>C GRCh38
NC_000021.8:g.36259360G>C , CM000683.1:g.36259360G>C GRCh37
NC_000021.7:g.35181230G>C NCBI36
NG_011402.2:g.1102649C>G , LRG_482:g.1102649C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.131C>G MANE Select ENSP00000501943.1:p.Ser44Cys
ENST00000300305.7:c.131C>G ENSP00000300305.3:p.Ser44Cys
ENST00000344691.8:c.50C>G ENSP00000340690.4:p.Ser17Cys
ENST00000358356.9:c.50C>G ENSP00000351123.5:p.Ser17Cys
ENST00000399237.6:c.95C>G ENSP00000382182.2:p.Ser32Cys
ENST00000399240.5:c.50C>G ENSP00000382184.1:p.Ser17Cys
ENST00000437180.5:c.131C>G ENSP00000409227.1:p.Ser44Cys
ENST00000455571.5:c.92C>G ENSP00000388189.1:p.Ser31Cys
ENST00000475045.6:c.131C>G ENSP00000477072.1:p.Ser44Cys
ENST00000482318.5:c.59-6350C>G ENSP00000477067.1:n.59-6350C>G
NM_001001890.2:c.50C>G NP_001001890.1:p.Ser17Cys
NM_001122607.1:c.50C>G NP_001116079.1:p.Ser17Cys
NM_001754.4:c.131C>G , LRG_482t1:c.131C>G NP_001745.2:p.Ser44Cys
XM_005261068.3:c.95C>G XP_005261125.1:p.Ser32Cys
XM_005261069.3:c.131C>G XP_005261126.1:p.Ser44Cys
XM_011529766.1:c.131C>G XP_011528068.1:p.Ser44Cys
XM_011529767.1:c.92C>G XP_011528069.1:p.Ser31Cys
XM_011529768.1:c.92C>G XP_011528070.1:p.Ser31Cys
XM_011529770.1:c.131C>G XP_011528072.1:p.Ser44Cys
XR_937576.1:n.310C>G
XM_005261069.4:c.131C>G XP_005261126.1:p.Ser44Cys
XM_011529766.2:c.131C>G XP_011528068.1:p.Ser44Cys
XM_011529767.2:c.92C>G XP_011528069.1:p.Ser31Cys
XM_011529768.2:c.92C>G XP_011528070.1:p.Ser31Cys
XM_011529770.2:c.131C>G XP_011528072.1:p.Ser44Cys
XM_017028487.1:c.-23C>G XP_016883976.1:n.-23C>G
XR_937576.2:n.357C>G
NM_001001890.3:c.50C>G NP_001001890.1:p.Ser17Cys
NM_001122607.2:c.50C>G NP_001116079.1:p.Ser17Cys
NM_001754.5:c.131C>G MANE Select NP_001745.2:p.Ser44Cys
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