Canonical Allele Identifier: CA1020294
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1463405
ClinVar RCV Id: RCV001997696
dbSNP Id: rs777934972
ExAC: 1:115222262 C / T
gnomAD v2: 1-115222262-C-T
gnomAD v4: 1-114679641-C-T
COSMIC: COSM224639 COSM1667849
MyVariant Identifiers: chr1:g.115222262C>T (hg19) chr1:g.114679641C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114679641C>T , CM000663.2:g.114679641C>T GRCh38
NC_000001.10:g.115222262C>T , CM000663.1:g.115222262C>T GRCh37
NC_000001.9:g.115023785C>T NCBI36
NG_008012.1:g.20915G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.823G>A ENSP00000358551.4:p.Glu275Lys
ENST00000520113.7:c.835G>A MANE Select ENSP00000430075.3:p.Glu279Lys
ENST00000637080.1:c.618G>A ENSP00000489753.1:n.618G>A
ENST00000639077.1:n.500G>A
ENST00000369538.3:c.922G>A ENSP00000358551.3:p.Glu308Lys
ENST00000520113.6:c.934G>A ENSP00000430075.2:p.Glu312Lys
NM_000036.2:c.934G>A NP_000027.2:p.Glu312Lys
NM_001172626.1:c.922G>A NP_001166097.1:p.Glu308Lys
NM_000036.3:c.835G>A MANE Select NP_000027.3:p.Glu279Lys
NM_001172626.2:c.823G>A NP_001166097.2:p.Glu275Lys
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