Canonical Allele Identifier: CA341752447

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226862T>A (hg19) ; chr1:g.114684241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684241T>A , CM000663.2:g.114684241T>A	GRCh38
NC_000001.10:g.115226862T>A , CM000663.1:g.115226862T>A	GRCh37
NC_000001.9:g.115028385T>A	NCBI36
NG_008012.1:g.16315A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.493A>T	ENSP00000358551.4:p.Ile165Phe
ENST00000520113.7:c.505A>T MANE Select	ENSP00000430075.3:p.Ile169Phe
ENST00000637080.1:c.508A>T	ENSP00000489753.1:p.Ile170Phe
ENST00000639077.1:n.170A>T
ENST00000369538.3:c.592A>T	ENSP00000358551.3:p.Ile198Phe
ENST00000485564.3:n.379A>T
ENST00000520113.6:c.604A>T	ENSP00000430075.2:p.Ile202Phe
NM_000036.2:c.604A>T	NP_000027.2:p.Ile202Phe
NM_001172626.1:c.592A>T	NP_001166097.1:p.Ile198Phe
NM_000036.3:c.505A>T MANE Select	NP_000027.3:p.Ile169Phe
NM_001172626.2:c.493A>T	NP_001166097.2:p.Ile165Phe