Canonical Allele Identifier: CA341752520

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226880A>C (hg19) ; chr1:g.114684259A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684259A>C , CM000663.2:g.114684259A>C	GRCh38
NC_000001.10:g.115226880A>C , CM000663.1:g.115226880A>C	GRCh37
NC_000001.9:g.115028403A>C	NCBI36
NG_008012.1:g.16297T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.475T>G	ENSP00000358551.4:p.Ser159Ala
ENST00000520113.7:c.487T>G MANE Select	ENSP00000430075.3:p.Ser163Ala
ENST00000637080.1:c.490T>G	ENSP00000489753.1:p.Ser164Ala
ENST00000639077.1:n.152T>G
ENST00000369538.3:c.574T>G	ENSP00000358551.3:p.Ser192Ala
ENST00000485564.3:n.361T>G
ENST00000520113.6:c.586T>G	ENSP00000430075.2:p.Ser196Ala
NM_000036.2:c.586T>G	NP_000027.2:p.Ser196Ala
NM_001172626.1:c.574T>G	NP_001166097.1:p.Ser192Ala
NM_000036.3:c.487T>G MANE Select	NP_000027.3:p.Ser163Ala
NM_001172626.2:c.475T>G	NP_001166097.2:p.Ser159Ala