Canonical Allele Identifier: CA170695
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 91877
ClinVar RCV Id: RCV000143851 RCV001854365
dbSNP Id: rs542684385
ExAC: 1:115226860 A / C
gnomAD v2: 1-115226860-A-C
gnomAD v3: 1-114684239-A-C
gnomAD v4: 1-114684239-A-C
MyVariant Identifiers: chr1:g.115226860A>C (hg19) chr1:g.114684239A>C (hg38)
PubMed: PMID:25155876
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684239A>C , CM000663.2:g.114684239A>C GRCh38
NC_000001.10:g.115226860A>C , CM000663.1:g.115226860A>C GRCh37
NC_000001.9:g.115028383A>C NCBI36
NG_008012.1:g.16317T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.495T>G ENSP00000358551.4:p.Ile165Met
ENST00000520113.7:c.507T>G MANE Select ENSP00000430075.3:p.Ile169Met
ENST00000637080.1:c.510T>G ENSP00000489753.1:p.Ile170Met
ENST00000639077.1:n.172T>G
ENST00000369538.3:c.594T>G ENSP00000358551.3:p.Ile198Met
ENST00000485564.3:n.381T>G
ENST00000520113.6:c.606T>G ENSP00000430075.2:p.Ile202Met
NM_000036.2:c.606T>G NP_000027.2:p.Ile202Met
NM_001172626.1:c.594T>G NP_001166097.1:p.Ile198Met
NM_000036.3:c.507T>G MANE Select NP_000027.3:p.Ile169Met
NM_001172626.2:c.495T>G NP_001166097.2:p.Ile165Met
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