Canonical Allele Identifier: CA341752239

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226824A>T (hg19) ; chr1:g.114684203A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684203A>T , CM000663.2:g.114684203A>T	GRCh38
NC_000001.10:g.115226824A>T , CM000663.1:g.115226824A>T	GRCh37
NC_000001.9:g.115028347A>T	NCBI36
NG_008012.1:g.16353T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.531T>A	ENSP00000358551.4:p.Tyr177Ter
ENST00000520113.7:c.543T>A MANE Select	ENSP00000430075.3:p.Tyr181Ter
ENST00000637080.1:c.546T>A	ENSP00000489753.1:p.Tyr182Ter
ENST00000639077.1:n.208T>A
ENST00000369538.3:c.630T>A	ENSP00000358551.3:p.Tyr210Ter
ENST00000485564.3:n.417T>A
ENST00000520113.6:c.642T>A	ENSP00000430075.2:p.Tyr214Ter
NM_000036.2:c.642T>A	NP_000027.2:p.Tyr214Ter
NM_001172626.1:c.630T>A	NP_001166097.1:p.Tyr210Ter
NM_000036.3:c.543T>A MANE Select	NP_000027.3:p.Tyr181Ter
NM_001172626.2:c.531T>A	NP_001166097.2:p.Tyr177Ter