Canonical Allele Identifier: CA410202518
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs2146360866
MyVariant Identifiers: chr21:g.36252881G>C (hg19) chr21:g.34880584G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880584G>C , CM000683.2:g.34880584G>C GRCh38
NC_000021.8:g.36252881G>C , CM000683.1:g.36252881G>C GRCh37
NC_000021.7:g.35174751G>C NCBI36
NG_011402.2:g.1109128C>G , LRG_482:g.1109128C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.481C>G MANE Select ENSP00000501943.1:p.Leu161Val
ENST00000300305.7:c.481C>G ENSP00000300305.3:p.Leu161Val
ENST00000344691.8:c.400C>G ENSP00000340690.4:p.Leu134Val
ENST00000358356.9:c.400C>G ENSP00000351123.5:p.Leu134Val
ENST00000399237.6:c.445C>G ENSP00000382182.2:p.Leu149Val
ENST00000399240.5:c.400C>G ENSP00000382184.1:p.Leu134Val
ENST00000437180.5:c.481C>G ENSP00000409227.1:p.Leu161Val
ENST00000482318.5:c.*71C>G ENSP00000477067.1:n.*71C>G
NM_001001890.2:c.400C>G NP_001001890.1:p.Leu134Val
NM_001122607.1:c.400C>G NP_001116079.1:p.Leu134Val
NM_001754.4:c.481C>G , LRG_482t1:c.481C>G NP_001745.2:p.Leu161Val
XM_005261068.3:c.445C>G XP_005261125.1:p.Leu149Val
XM_005261069.3:c.481C>G XP_005261126.1:p.Leu161Val
XM_011529766.1:c.481C>G XP_011528068.1:p.Leu161Val
XM_011529767.1:c.442C>G XP_011528069.1:p.Leu148Val
XM_011529768.1:c.442C>G XP_011528070.1:p.Leu148Val
XM_011529770.1:c.481C>G XP_011528072.1:p.Leu161Val
XR_937576.1:n.660C>G
XM_005261069.4:c.481C>G XP_005261126.1:p.Leu161Val
XM_011529766.2:c.481C>G XP_011528068.1:p.Leu161Val
XM_011529767.2:c.442C>G XP_011528069.1:p.Leu148Val
XM_011529768.2:c.442C>G XP_011528070.1:p.Leu148Val
XM_011529770.2:c.481C>G XP_011528072.1:p.Leu161Val
XM_017028487.1:c.328C>G XP_016883976.1:p.Leu110Val
XR_937576.2:n.707C>G
NM_001001890.3:c.400C>G NP_001001890.1:p.Leu134Val
NM_001122607.2:c.400C>G NP_001116079.1:p.Leu134Val
NM_001754.5:c.481C>G MANE Select NP_001745.2:p.Leu161Val
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