Canonical Allele Identifier: CA410146637
Gene: RUNX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.36164453C>G (hg19) chr21:g.34792156C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792156C>G , CM000683.2:g.34792156C>G GRCh38
NC_000021.8:g.36164453C>G , CM000683.1:g.36164453C>G GRCh37
NC_000021.7:g.35086323C>G NCBI36
NG_011402.2:g.1197556G>C , LRG_482:g.1197556G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1422G>C MANE Select ENSP00000501943.1:p.Glu474Asp
ENST00000300305.7:c.1422G>C ENSP00000300305.3:p.Glu474Asp
ENST00000344691.8:c.1341G>C ENSP00000340690.4:p.Glu447Asp
ENST00000399240.5:c.1149G>C ENSP00000382184.1:p.Glu383Asp
ENST00000437180.5:c.1422G>C ENSP00000409227.1:p.Glu474Asp
ENST00000482318.5:c.*1012G>C ENSP00000477067.1:n.*1012G>C
NM_001001890.2:c.1341G>C NP_001001890.1:p.Glu447Asp
NM_001754.4:c.1422G>C , LRG_482t1:c.1422G>C NP_001745.2:p.Glu474Asp
XM_005261068.3:c.1386G>C XP_005261125.1:p.Glu462Asp
XM_005261069.3:c.1230G>C XP_005261126.1:p.Glu410Asp
XM_011529766.1:c.1422G>C XP_011528068.1:p.Glu474Asp
XM_011529767.1:c.1383G>C XP_011528069.1:p.Glu461Asp
XM_011529768.1:c.1191G>C XP_011528070.1:p.Glu397Asp
XM_005261069.4:c.1230G>C XP_005261126.1:p.Glu410Asp
XM_011529766.2:c.1422G>C XP_011528068.1:p.Glu474Asp
XM_011529767.2:c.1383G>C XP_011528069.1:p.Glu461Asp
XM_011529768.2:c.1191G>C XP_011528070.1:p.Glu397Asp
XM_017028487.1:c.1269G>C XP_016883976.1:p.Glu423Asp
NM_001001890.3:c.1341G>C NP_001001890.1:p.Glu447Asp
NM_001754.5:c.1422G>C MANE Select NP_001745.2:p.Glu474Asp
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