Canonical Allele Identifier: CA1020171
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1981141
ClinVar RCV Id: RCV002751285
dbSNP Id: rs770870863
ExAC: 1:115220125 G / A
gnomAD v2: 1-115220125-G-A
gnomAD v3: 1-114677504-G-A
gnomAD v4: 1-114677504-G-A
COSMIC: COSM1320115 COSM1320116
MyVariant Identifiers: chr1:g.115220125G>A (hg19) chr1:g.114677504G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677504G>A , CM000663.2:g.114677504G>A GRCh38
NC_000001.10:g.115220125G>A , CM000663.1:g.115220125G>A GRCh37
NC_000001.9:g.115021648G>A NCBI36
NG_008012.1:g.23052C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1223C>T ENSP00000358551.4:p.Ala408Val
ENST00000520113.7:c.1235C>T MANE Select ENSP00000430075.3:p.Ala412Val
ENST00000637080.1:c.1018C>T ENSP00000489753.1:n.1018C>T
ENST00000639077.1:n.900C>T
ENST00000369538.3:c.1322C>T ENSP00000358551.3:p.Ala441Val
ENST00000520113.6:c.1334C>T ENSP00000430075.2:p.Ala445Val
NM_000036.2:c.1334C>T NP_000027.2:p.Ala445Val
NM_001172626.1:c.1322C>T NP_001166097.1:p.Ala441Val
NM_000036.3:c.1235C>T MANE Select NP_000027.3:p.Ala412Val
NM_001172626.2:c.1223C>T NP_001166097.2:p.Ala408Val
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