Canonical Allele Identifier: CA419883529

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226941C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684320C>T , CM000663.2:g.114684320C>T	GRCh38
NC_000001.10:g.115226941C>T , CM000663.1:g.115226941C>T	GRCh37
NC_000001.9:g.115028464C>T	NCBI36
NG_008012.1:g.16236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.414G>A	ENSP00000358551.4:p.Arg138=
ENST00000520113.7:c.426G>A MANE Select	ENSP00000430075.3:p.Arg142=
ENST00000637080.1:c.429G>A	ENSP00000489753.1:p.Arg143=
ENST00000639077.1:n.91G>A
ENST00000369538.3:c.513G>A	ENSP00000358551.3:p.Arg171=
ENST00000485564.3:n.300G>A
ENST00000520113.6:c.525G>A	ENSP00000430075.2:p.Arg175=
NM_000036.2:c.525G>A	NP_000027.2:p.Arg175=
NM_001172626.1:c.513G>A	NP_001166097.1:p.Arg171=
NM_000036.3:c.426G>A MANE Select	NP_000027.3:p.Arg142=
NM_001172626.2:c.414G>A	NP_001166097.2:p.Arg138=