Canonical Allele Identifier: CA1020292
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1394503
ClinVar RCV Id: RCV001898548
dbSNP Id: rs748720444
ExAC: 1:115222253 C / T
gnomAD v2: 1-115222253-C-T
gnomAD v4: 1-114679632-C-T
COSMIC: COSM3471662 COSM3471663
MyVariant Identifiers: chr1:g.115222253C>T (hg19) chr1:g.114679632C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114679632C>T , CM000663.2:g.114679632C>T GRCh38
NC_000001.10:g.115222253C>T , CM000663.1:g.115222253C>T GRCh37
NC_000001.9:g.115023776C>T NCBI36
NG_008012.1:g.20924G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.832G>A ENSP00000358551.4:p.Glu278Lys
ENST00000520113.7:c.844G>A MANE Select ENSP00000430075.3:p.Glu282Lys
ENST00000637080.1:c.627G>A ENSP00000489753.1:n.627G>A
ENST00000639077.1:n.509G>A
ENST00000369538.3:c.931G>A ENSP00000358551.3:p.Glu311Lys
ENST00000520113.6:c.943G>A ENSP00000430075.2:p.Glu315Lys
NM_000036.2:c.943G>A NP_000027.2:p.Glu315Lys
NM_001172626.1:c.931G>A NP_001166097.1:p.Glu311Lys
NM_000036.3:c.844G>A MANE Select NP_000027.3:p.Glu282Lys
NM_001172626.2:c.832G>A NP_001166097.2:p.Glu278Lys
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