Canonical Allele Identifier: CA1020437
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1367146
ClinVar RCV Id: RCV001947142
dbSNP Id: rs149160130
ExAC: 1:115226973 C / T
gnomAD v2: 1-115226973-C-T
gnomAD v3: 1-114684352-C-T
gnomAD v4: 1-114684352-C-T
MyVariant Identifiers: chr1:g.115226973C>T (hg19) chr1:g.114684352C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684352C>T , CM000663.2:g.114684352C>T GRCh38
NC_000001.10:g.115226973C>T , CM000663.1:g.115226973C>T GRCh37
NC_000001.9:g.115028496C>T NCBI36
NG_008012.1:g.16204G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.382G>A ENSP00000358551.4:p.Asp128Asn
ENST00000520113.7:c.394G>A MANE Select ENSP00000430075.3:p.Asp132Asn
ENST00000637080.1:c.397G>A ENSP00000489753.1:p.Asp133Asn
ENST00000639077.1:n.59G>A
ENST00000369538.3:c.481G>A ENSP00000358551.3:p.Asp161Asn
ENST00000485564.3:n.268G>A
ENST00000520113.6:c.493G>A ENSP00000430075.2:p.Asp165Asn
NM_000036.2:c.493G>A NP_000027.2:p.Asp165Asn
NM_001172626.1:c.481G>A NP_001166097.1:p.Asp161Asn
NM_000036.3:c.394G>A MANE Select NP_000027.3:p.Asp132Asn
NM_001172626.2:c.382G>A NP_001166097.2:p.Asp128Asn
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