Canonical Allele Identifier: CA419883277

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222227G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679606G>T , CM000663.2:g.114679606G>T	GRCh38
NC_000001.10:g.115222227G>T , CM000663.1:g.115222227G>T	GRCh37
NC_000001.9:g.115023750G>T	NCBI36
NG_008012.1:g.20950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.858C>A	ENSP00000358551.4:p.Pro286=
ENST00000520113.7:c.870C>A MANE Select	ENSP00000430075.3:p.Pro290=
ENST00000637080.1:c.653C>A	ENSP00000489753.1:n.653C>A
ENST00000639077.1:n.535C>A
ENST00000369538.3:c.957C>A	ENSP00000358551.3:p.Pro319=
ENST00000520113.6:c.969C>A	ENSP00000430075.2:p.Pro323=
NM_000036.2:c.969C>A	NP_000027.2:p.Pro323=
NM_001172626.1:c.957C>A	NP_001166097.1:p.Pro319=
NM_000036.3:c.870C>A MANE Select	NP_000027.3:p.Pro290=
NM_001172626.2:c.858C>A	NP_001166097.2:p.Pro286=