Canonical Allele Identifier: CA419883487

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226869C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684248C>T , CM000663.2:g.114684248C>T	GRCh38
NC_000001.10:g.115226869C>T , CM000663.1:g.115226869C>T	GRCh37
NC_000001.9:g.115028392C>T	NCBI36
NG_008012.1:g.16308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.486G>A	ENSP00000358551.4:p.Leu162=
ENST00000520113.7:c.498G>A MANE Select	ENSP00000430075.3:p.Leu166=
ENST00000637080.1:c.501G>A	ENSP00000489753.1:p.Leu167=
ENST00000639077.1:n.163G>A
ENST00000369538.3:c.585G>A	ENSP00000358551.3:p.Leu195=
ENST00000485564.3:n.372G>A
ENST00000520113.6:c.597G>A	ENSP00000430075.2:p.Leu199=
NM_000036.2:c.597G>A	NP_000027.2:p.Leu199=
NM_001172626.1:c.585G>A	NP_001166097.1:p.Leu195=
NM_000036.3:c.498G>A MANE Select	NP_000027.3:p.Leu166=
NM_001172626.2:c.486G>A	NP_001166097.2:p.Leu162=