Canonical Allele Identifier: CA419883486

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684247-G-T
• MyVariant Identifiers: chr1:g.115226868G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684247G>T , CM000663.2:g.114684247G>T	GRCh38
NC_000001.10:g.115226868G>T , CM000663.1:g.115226868G>T	GRCh37
NC_000001.9:g.115028391G>T	NCBI36
NG_008012.1:g.16309C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.487C>A	ENSP00000358551.4:p.Arg163=
ENST00000520113.7:c.499C>A MANE Select	ENSP00000430075.3:p.Arg167=
ENST00000637080.1:c.502C>A	ENSP00000489753.1:p.Arg168=
ENST00000639077.1:n.164C>A
ENST00000369538.3:c.586C>A	ENSP00000358551.3:p.Arg196=
ENST00000485564.3:n.373C>A
ENST00000520113.6:c.598C>A	ENSP00000430075.2:p.Arg200=
NM_000036.2:c.598C>A	NP_000027.2:p.Arg200=
NM_001172626.1:c.586C>A	NP_001166097.1:p.Arg196=
NM_000036.3:c.499C>A MANE Select	NP_000027.3:p.Arg167=
NM_001172626.2:c.487C>A	NP_001166097.2:p.Arg163=