Canonical Allele Identifier: CA1020158
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2173226
ClinVar RCV Id: RCV002598584
dbSNP Id: rs764950035
ExAC: 1:115220056 T / C
gnomAD v2: 1-115220056-T-C
gnomAD v3: 1-114677435-T-C
gnomAD v4: 1-114677435-T-C
MyVariant Identifiers: chr1:g.115220056T>C (hg19) chr1:g.114677435T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677435T>C , CM000663.2:g.114677435T>C GRCh38
NC_000001.10:g.115220056T>C , CM000663.1:g.115220056T>C GRCh37
NC_000001.9:g.115021579T>C NCBI36
NG_008012.1:g.23121A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1292A>G ENSP00000358551.4:p.Glu431Gly
ENST00000520113.7:c.1304A>G MANE Select ENSP00000430075.3:p.Glu435Gly
ENST00000637080.1:c.1087A>G ENSP00000489753.1:n.1087A>G
ENST00000639077.1:n.969A>G
ENST00000369538.3:c.1391A>G ENSP00000358551.3:p.Glu464Gly
ENST00000520113.6:c.1403A>G ENSP00000430075.2:p.Glu468Gly
NM_000036.2:c.1403A>G NP_000027.2:p.Glu468Gly
NM_001172626.1:c.1391A>G NP_001166097.1:p.Glu464Gly
NM_000036.3:c.1304A>G MANE Select NP_000027.3:p.Glu435Gly
NM_001172626.2:c.1292A>G NP_001166097.2:p.Glu431Gly
Search 100 bp 5'
Search 100 bp 3'