Canonical Allele Identifier: CA341750063

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222243T>A (hg19) ; chr1:g.114679622T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679622T>A , CM000663.2:g.114679622T>A	GRCh38
NC_000001.10:g.115222243T>A , CM000663.1:g.115222243T>A	GRCh37
NC_000001.9:g.115023766T>A	NCBI36
NG_008012.1:g.20934A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.842A>T	ENSP00000358551.4:p.Glu281Val
ENST00000520113.7:c.854A>T MANE Select	ENSP00000430075.3:p.Glu285Val
ENST00000637080.1:c.637A>T	ENSP00000489753.1:n.637A>T
ENST00000639077.1:n.519A>T
ENST00000369538.3:c.941A>T	ENSP00000358551.3:p.Glu314Val
ENST00000520113.6:c.953A>T	ENSP00000430075.2:p.Glu318Val
NM_000036.2:c.953A>T	NP_000027.2:p.Glu318Val
NM_001172626.1:c.941A>T	NP_001166097.1:p.Glu314Val
NM_000036.3:c.854A>T MANE Select	NP_000027.3:p.Glu285Val
NM_001172626.2:c.842A>T	NP_001166097.2:p.Glu281Val