Canonical Allele Identifier: CA419882979

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115219974G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677353G>T , CM000663.2:g.114677353G>T	GRCh38
NC_000001.10:g.115219974G>T , CM000663.1:g.115219974G>T	GRCh37
NC_000001.9:g.115021497G>T	NCBI36
NG_008012.1:g.23203C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1374C>A	ENSP00000358551.4:p.Ile458=
ENST00000520113.7:c.1386C>A MANE Select	ENSP00000430075.3:p.Ile462=
ENST00000637080.1:c.1169C>A	ENSP00000489753.1:n.1169C>A
ENST00000639077.1:n.1051C>A
ENST00000369538.3:c.1473C>A	ENSP00000358551.3:p.Ile491=
ENST00000520113.6:c.1485C>A	ENSP00000430075.2:p.Ile495=
NM_000036.2:c.1485C>A	NP_000027.2:p.Ile495=
NM_001172626.1:c.1473C>A	NP_001166097.1:p.Ile491=
NM_000036.3:c.1386C>A MANE Select	NP_000027.3:p.Ile462=
NM_001172626.2:c.1374C>A	NP_001166097.2:p.Ile458=