Canonical Allele Identifier: CA410202725
Gene: RUNX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.36252977G>T (hg19) chr21:g.34880680G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880680G>T , CM000683.2:g.34880680G>T GRCh38
NC_000021.8:g.36252977G>T , CM000683.1:g.36252977G>T GRCh37
NC_000021.7:g.35174847G>T NCBI36
NG_011402.2:g.1109032C>A , LRG_482:g.1109032C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.385C>A MANE Select ENSP00000501943.1:p.Leu129Met
ENST00000300305.7:c.385C>A ENSP00000300305.3:p.Leu129Met
ENST00000344691.8:c.304C>A ENSP00000340690.4:p.Leu102Met
ENST00000358356.9:c.304C>A ENSP00000351123.5:p.Leu102Met
ENST00000399237.6:c.349C>A ENSP00000382182.2:p.Leu117Met
ENST00000399240.5:c.304C>A ENSP00000382184.1:p.Leu102Met
ENST00000437180.5:c.385C>A ENSP00000409227.1:p.Leu129Met
ENST00000455571.5:c.346C>A ENSP00000388189.1:p.Leu116Met
ENST00000482318.5:c.92C>A ENSP00000477067.1:p.Ser31Tyr
NM_001001890.2:c.304C>A NP_001001890.1:p.Leu102Met
NM_001122607.1:c.304C>A NP_001116079.1:p.Leu102Met
NM_001754.4:c.385C>A , LRG_482t1:c.385C>A NP_001745.2:p.Leu129Met
XM_005261068.3:c.349C>A XP_005261125.1:p.Leu117Met
XM_005261069.3:c.385C>A XP_005261126.1:p.Leu129Met
XM_011529766.1:c.385C>A XP_011528068.1:p.Leu129Met
XM_011529767.1:c.346C>A XP_011528069.1:p.Leu116Met
XM_011529768.1:c.346C>A XP_011528070.1:p.Leu116Met
XM_011529770.1:c.385C>A XP_011528072.1:p.Leu129Met
XR_937576.1:n.564C>A
XM_005261069.4:c.385C>A XP_005261126.1:p.Leu129Met
XM_011529766.2:c.385C>A XP_011528068.1:p.Leu129Met
XM_011529767.2:c.346C>A XP_011528069.1:p.Leu116Met
XM_011529768.2:c.346C>A XP_011528070.1:p.Leu116Met
XM_011529770.2:c.385C>A XP_011528072.1:p.Leu129Met
XM_017028487.1:c.232C>A XP_016883976.1:p.Leu78Met
XR_937576.2:n.611C>A
NM_001001890.3:c.304C>A NP_001001890.1:p.Leu102Met
NM_001122607.2:c.304C>A NP_001116079.1:p.Leu102Met
NM_001754.5:c.385C>A MANE Select NP_001745.2:p.Leu129Met
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