Canonical Allele Identifier: CA341735166

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115236061C>G (hg19) ; chr1:g.114693440C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114693440C>G , CM000663.2:g.114693440C>G	GRCh38
NC_000001.10:g.115236061C>G , CM000663.1:g.115236061C>G	GRCh37
NC_000001.9:g.115037584C>G	NCBI36
NG_008012.1:g.7116G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.22+2010G>C	ENSP00000358551.4:n.22+2010G>C
ENST00000520113.7:c.30G>C MANE Select	ENSP00000430075.3:p.Glu10Asp
ENST00000637080.1:c.37+1997G>C	ENSP00000489753.1:n.37+1997G>C
ENST00000369538.3:c.121+2010G>C	ENSP00000358551.3:n.121+2010G>C
ENST00000520113.6:c.129G>C	ENSP00000430075.2:p.Glu43Asp
NM_000036.2:c.129G>C	NP_000027.2:p.Glu43Asp
NM_001172626.1:c.121+2010G>C	NP_001166097.1:n.121+2010G>C
NM_000036.3:c.30G>C MANE Select	NP_000027.3:p.Glu10Asp
NM_001172626.2:c.22+2010G>C	NP_001166097.2:n.22+2010G>C