Canonical Allele Identifier: CA341750107

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222260C>A (hg19) ; chr1:g.114679639C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679639C>A , CM000663.2:g.114679639C>A	GRCh38
NC_000001.10:g.115222260C>A , CM000663.1:g.115222260C>A	GRCh37
NC_000001.9:g.115023783C>A	NCBI36
NG_008012.1:g.20917G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.825G>T	ENSP00000358551.4:p.Glu275Asp
ENST00000520113.7:c.837G>T MANE Select	ENSP00000430075.3:p.Glu279Asp
ENST00000637080.1:c.620G>T	ENSP00000489753.1:n.620G>T
ENST00000639077.1:n.502G>T
ENST00000369538.3:c.924G>T	ENSP00000358551.3:p.Glu308Asp
ENST00000520113.6:c.936G>T	ENSP00000430075.2:p.Glu312Asp
NM_000036.2:c.936G>T	NP_000027.2:p.Glu312Asp
NM_001172626.1:c.924G>T	NP_001166097.1:p.Glu308Asp
NM_000036.3:c.837G>T MANE Select	NP_000027.3:p.Glu279Asp
NM_001172626.2:c.825G>T	NP_001166097.2:p.Glu275Asp