Canonical Allele Identifier: CA341752798

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226957C>G (hg19) ; chr1:g.114684336C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684336C>G , CM000663.2:g.114684336C>G	GRCh38
NC_000001.10:g.115226957C>G , CM000663.1:g.115226957C>G	GRCh37
NC_000001.9:g.115028480C>G	NCBI36
NG_008012.1:g.16220G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.398G>C	ENSP00000358551.4:p.Cys133Ser
ENST00000520113.7:c.410G>C MANE Select	ENSP00000430075.3:p.Cys137Ser
ENST00000637080.1:c.413G>C	ENSP00000489753.1:p.Cys138Ser
ENST00000639077.1:n.75G>C
ENST00000369538.3:c.497G>C	ENSP00000358551.3:p.Cys166Ser
ENST00000485564.3:n.284G>C
ENST00000520113.6:c.509G>C	ENSP00000430075.2:p.Cys170Ser
NM_000036.2:c.509G>C	NP_000027.2:p.Cys170Ser
NM_001172626.1:c.497G>C	NP_001166097.1:p.Cys166Ser
NM_000036.3:c.410G>C MANE Select	NP_000027.3:p.Cys137Ser
NM_001172626.2:c.398G>C	NP_001166097.2:p.Cys133Ser