Canonical Allele Identifier: CA1020280

Gene: AMPD1

Linked Data

• dbSNP Id: rs776813209
• ExAC: 1:115222174 T / C
• gnomAD v2: 1-115222174-T-C
• gnomAD v4: 1-114679553-T-C
• MyVariant Identifiers: chr1:g.115222174T>C (hg19) ; chr1:g.114679553T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679553T>C , CM000663.2:g.114679553T>C	GRCh38
NC_000001.10:g.115222174T>C , CM000663.1:g.115222174T>C	GRCh37
NC_000001.9:g.115023697T>C	NCBI36
NG_008012.1:g.21003A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.885+26A>G	ENSP00000358551.4:n.885+26A>G
ENST00000520113.7:c.897+26A>G MANE Select	ENSP00000430075.3:n.897+26A>G
ENST00000637080.1:c.680+26A>G	ENSP00000489753.1:n.680+26A>G
ENST00000639077.1:n.562+26A>G
ENST00000369538.3:c.984+26A>G	ENSP00000358551.3:n.984+26A>G
ENST00000520113.6:c.996+26A>G	ENSP00000430075.2:n.996+26A>G
NM_000036.2:c.996+26A>G	NP_000027.2:n.996+26A>G
NM_001172626.1:c.984+26A>G	NP_001166097.1:n.984+26A>G
NM_000036.3:c.897+26A>G MANE Select	NP_000027.3:n.897+26A>G
NM_001172626.2:c.885+26A>G	NP_001166097.2:n.885+26A>G