Canonical Allele Identifier: CA410147170
Gene: RUNX1 HGNC NCBI

Linked Data

gnomAD v4: 21-34792224-C-A
MyVariant Identifiers: chr21:g.36164521C>A (hg19) chr21:g.34792224C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792224C>A , CM000683.2:g.34792224C>A GRCh38
NC_000021.8:g.36164521C>A , CM000683.1:g.36164521C>A GRCh37
NC_000021.7:g.35086391C>A NCBI36
NG_011402.2:g.1197488G>T , LRG_482:g.1197488G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1354G>T MANE Select ENSP00000501943.1:p.Val452Leu
ENST00000300305.7:c.1354G>T ENSP00000300305.3:p.Val452Leu
ENST00000344691.8:c.1273G>T ENSP00000340690.4:p.Val425Leu
ENST00000399240.5:c.1081G>T ENSP00000382184.1:p.Val361Leu
ENST00000437180.5:c.1354G>T ENSP00000409227.1:p.Val452Leu
ENST00000482318.5:c.*944G>T ENSP00000477067.1:n.*944G>T
NM_001001890.2:c.1273G>T NP_001001890.1:p.Val425Leu
NM_001754.4:c.1354G>T , LRG_482t1:c.1354G>T NP_001745.2:p.Val452Leu
XM_005261068.3:c.1318G>T XP_005261125.1:p.Val440Leu
XM_005261069.3:c.1162G>T XP_005261126.1:p.Val388Leu
XM_011529766.1:c.1354G>T XP_011528068.1:p.Val452Leu
XM_011529767.1:c.1315G>T XP_011528069.1:p.Val439Leu
XM_011529768.1:c.1123G>T XP_011528070.1:p.Val375Leu
XM_005261069.4:c.1162G>T XP_005261126.1:p.Val388Leu
XM_011529766.2:c.1354G>T XP_011528068.1:p.Val452Leu
XM_011529767.2:c.1315G>T XP_011528069.1:p.Val439Leu
XM_011529768.2:c.1123G>T XP_011528070.1:p.Val375Leu
XM_017028487.1:c.1201G>T XP_016883976.1:p.Val401Leu
NM_001001890.3:c.1273G>T NP_001001890.1:p.Val425Leu
NM_001754.5:c.1354G>T MANE Select NP_001745.2:p.Val452Leu
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