Canonical Allele Identifier: CA341752837

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226968A>T (hg19) ; chr1:g.114684347A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684347A>T , CM000663.2:g.114684347A>T	GRCh38
NC_000001.10:g.115226968A>T , CM000663.1:g.115226968A>T	GRCh37
NC_000001.9:g.115028491A>T	NCBI36
NG_008012.1:g.16209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.387T>A	ENSP00000358551.4:p.Phe129Leu
ENST00000520113.7:c.399T>A MANE Select	ENSP00000430075.3:p.Phe133Leu
ENST00000637080.1:c.402T>A	ENSP00000489753.1:p.Phe134Leu
ENST00000639077.1:n.64T>A
ENST00000369538.3:c.486T>A	ENSP00000358551.3:p.Phe162Leu
ENST00000485564.3:n.273T>A
ENST00000520113.6:c.498T>A	ENSP00000430075.2:p.Phe166Leu
NM_000036.2:c.498T>A	NP_000027.2:p.Phe166Leu
NM_001172626.1:c.486T>A	NP_001166097.1:p.Phe162Leu
NM_000036.3:c.399T>A MANE Select	NP_000027.3:p.Phe133Leu
NM_001172626.2:c.387T>A	NP_001166097.2:p.Phe129Leu