Canonical Allele Identifier: CA1020170
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1632772
ClinVar RCV Id: RCV002119272 RCV003895921
dbSNP Id: rs141829342
ExAC: 1:115220124 C / T
gnomAD v2: 1-115220124-C-T
gnomAD v3: 1-114677503-C-T
gnomAD v4: 1-114677503-C-T
COSMIC: COSM894221 COSM1151798
MyVariant Identifiers: chr1:g.115220124C>T (hg19) chr1:g.114677503C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677503C>T , CM000663.2:g.114677503C>T GRCh38
NC_000001.10:g.115220124C>T , CM000663.1:g.115220124C>T GRCh37
NC_000001.9:g.115021647C>T NCBI36
NG_008012.1:g.23053G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1224G>A ENSP00000358551.4:p.Ala408=
ENST00000520113.7:c.1236G>A MANE Select ENSP00000430075.3:p.Ala412=
ENST00000637080.1:c.1019G>A ENSP00000489753.1:n.1019G>A
ENST00000639077.1:n.901G>A
ENST00000369538.3:c.1323G>A ENSP00000358551.3:p.Ala441=
ENST00000520113.6:c.1335G>A ENSP00000430075.2:p.Ala445=
NM_000036.2:c.1335G>A NP_000027.2:p.Ala445=
NM_001172626.1:c.1323G>A NP_001166097.1:p.Ala441=
NM_000036.3:c.1236G>A MANE Select NP_000027.3:p.Ala412=
NM_001172626.2:c.1224G>A NP_001166097.2:p.Ala408=
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