Canonical Allele Identifier: CA341752831

Gene: AMPD1

Linked Data

• dbSNP Id: rs1359353450
• gnomAD v2: 1-115226967-C-A
• MyVariant Identifiers: chr1:g.115226967C>A (hg19) ; chr1:g.114684346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684346C>A , CM000663.2:g.114684346C>A	GRCh38
NC_000001.10:g.115226967C>A , CM000663.1:g.115226967C>A	GRCh37
NC_000001.9:g.115028490C>A	NCBI36
NG_008012.1:g.16210G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.388G>T	ENSP00000358551.4:p.Glu130Ter
ENST00000520113.7:c.400G>T MANE Select	ENSP00000430075.3:p.Glu134Ter
ENST00000637080.1:c.403G>T	ENSP00000489753.1:p.Glu135Ter
ENST00000639077.1:n.65G>T
ENST00000369538.3:c.487G>T	ENSP00000358551.3:p.Glu163Ter
ENST00000485564.3:n.274G>T
ENST00000520113.6:c.499G>T	ENSP00000430075.2:p.Glu167Ter
NM_000036.2:c.499G>T	NP_000027.2:p.Glu167Ter
NM_001172626.1:c.487G>T	NP_001166097.1:p.Glu163Ter
NM_000036.3:c.400G>T MANE Select	NP_000027.3:p.Glu134Ter
NM_001172626.2:c.388G>T	NP_001166097.2:p.Glu130Ter