Canonical Allele Identifier: CA341752518

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226879G>C (hg19) ; chr1:g.114684258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684258G>C , CM000663.2:g.114684258G>C	GRCh38
NC_000001.10:g.115226879G>C , CM000663.1:g.115226879G>C	GRCh37
NC_000001.9:g.115028402G>C	NCBI36
NG_008012.1:g.16298C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.476C>G	ENSP00000358551.4:p.Ser159Cys
ENST00000520113.7:c.488C>G MANE Select	ENSP00000430075.3:p.Ser163Cys
ENST00000637080.1:c.491C>G	ENSP00000489753.1:p.Ser164Cys
ENST00000639077.1:n.153C>G
ENST00000369538.3:c.575C>G	ENSP00000358551.3:p.Ser192Cys
ENST00000485564.3:n.362C>G
ENST00000520113.6:c.587C>G	ENSP00000430075.2:p.Ser196Cys
NM_000036.2:c.587C>G	NP_000027.2:p.Ser196Cys
NM_001172626.1:c.575C>G	NP_001166097.1:p.Ser192Cys
NM_000036.3:c.488C>G MANE Select	NP_000027.3:p.Ser163Cys
NM_001172626.2:c.476C>G	NP_001166097.2:p.Ser159Cys