Canonical Allele Identifier: CA1020160
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1506703
ClinVar RCV Id: RCV002006922 RCV003365650
dbSNP Id: rs61757695
ExAC: 1:115220068 C / T
gnomAD v2: 1-115220068-C-T
gnomAD v3: 1-114677447-C-T
gnomAD v4: 1-114677447-C-T
MyVariant Identifiers: chr1:g.115220068C>T (hg19) chr1:g.114677447C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677447C>T , CM000663.2:g.114677447C>T GRCh38
NC_000001.10:g.115220068C>T , CM000663.1:g.115220068C>T GRCh37
NC_000001.9:g.115021591C>T NCBI36
NG_008012.1:g.23109G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1280G>A ENSP00000358551.4:p.Arg427His
ENST00000520113.7:c.1292G>A MANE Select ENSP00000430075.3:p.Arg431His
ENST00000637080.1:c.1075G>A ENSP00000489753.1:n.1075G>A
ENST00000639077.1:n.957G>A
ENST00000369538.3:c.1379G>A ENSP00000358551.3:p.Arg460His
ENST00000520113.6:c.1391G>A ENSP00000430075.2:p.Arg464His
NM_000036.2:c.1391G>A NP_000027.2:p.Arg464His
NM_001172626.1:c.1379G>A NP_001166097.1:p.Arg460His
NM_000036.3:c.1292G>A MANE Select NP_000027.3:p.Arg431His
NM_001172626.2:c.1280G>A NP_001166097.2:p.Arg427His
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