Canonical Allele Identifier: CA341752845

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226970A>T (hg19) ; chr1:g.114684349A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684349A>T , CM000663.2:g.114684349A>T	GRCh38
NC_000001.10:g.115226970A>T , CM000663.1:g.115226970A>T	GRCh37
NC_000001.9:g.115028493A>T	NCBI36
NG_008012.1:g.16207T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.385T>A	ENSP00000358551.4:p.Phe129Ile
ENST00000520113.7:c.397T>A MANE Select	ENSP00000430075.3:p.Phe133Ile
ENST00000637080.1:c.400T>A	ENSP00000489753.1:p.Phe134Ile
ENST00000639077.1:n.62T>A
ENST00000369538.3:c.484T>A	ENSP00000358551.3:p.Phe162Ile
ENST00000485564.3:n.271T>A
ENST00000520113.6:c.496T>A	ENSP00000430075.2:p.Phe166Ile
NM_000036.2:c.496T>A	NP_000027.2:p.Phe166Ile
NM_001172626.1:c.484T>A	NP_001166097.1:p.Phe162Ile
NM_000036.3:c.397T>A MANE Select	NP_000027.3:p.Phe133Ile
NM_001172626.2:c.385T>A	NP_001166097.2:p.Phe129Ile