Canonical Allele Identifier: CA341752866

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226975T>A (hg19) ; chr1:g.114684354T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684354T>A , CM000663.2:g.114684354T>A	GRCh38
NC_000001.10:g.115226975T>A , CM000663.1:g.115226975T>A	GRCh37
NC_000001.9:g.115028498T>A	NCBI36
NG_008012.1:g.16202A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.380A>T	ENSP00000358551.4:p.Glu127Val
ENST00000520113.7:c.392A>T MANE Select	ENSP00000430075.3:p.Glu131Val
ENST00000637080.1:c.395A>T	ENSP00000489753.1:p.Glu132Val
ENST00000639077.1:n.57A>T
ENST00000369538.3:c.479A>T	ENSP00000358551.3:p.Glu160Val
ENST00000485564.3:n.266A>T
ENST00000520113.6:c.491A>T	ENSP00000430075.2:p.Glu164Val
NM_000036.2:c.491A>T	NP_000027.2:p.Glu164Val
NM_001172626.1:c.479A>T	NP_001166097.1:p.Glu160Val
NM_000036.3:c.392A>T MANE Select	NP_000027.3:p.Glu131Val
NM_001172626.2:c.380A>T	NP_001166097.2:p.Glu127Val