Canonical Allele Identifier: CA341750059

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114679620-G-C
• MyVariant Identifiers: chr1:g.115222241G>C (hg19) ; chr1:g.114679620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679620G>C , CM000663.2:g.114679620G>C	GRCh38
NC_000001.10:g.115222241G>C , CM000663.1:g.115222241G>C	GRCh37
NC_000001.9:g.115023764G>C	NCBI36
NG_008012.1:g.20936C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.844C>G	ENSP00000358551.4:p.Leu282Val
ENST00000520113.7:c.856C>G MANE Select	ENSP00000430075.3:p.Leu286Val
ENST00000637080.1:c.639C>G	ENSP00000489753.1:n.639C>G
ENST00000639077.1:n.521C>G
ENST00000369538.3:c.943C>G	ENSP00000358551.3:p.Leu315Val
ENST00000520113.6:c.955C>G	ENSP00000430075.2:p.Leu319Val
NM_000036.2:c.955C>G	NP_000027.2:p.Leu319Val
NM_001172626.1:c.943C>G	NP_001166097.1:p.Leu315Val
NM_000036.3:c.856C>G MANE Select	NP_000027.3:p.Leu286Val
NM_001172626.2:c.844C>G	NP_001166097.2:p.Leu282Val