Canonical Allele Identifier: CA341752802

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684337-A-G
• MyVariant Identifiers: chr1:g.115226958A>G (hg19) ; chr1:g.114684337A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684337A>G , CM000663.2:g.114684337A>G	GRCh38
NC_000001.10:g.115226958A>G , CM000663.1:g.115226958A>G	GRCh37
NC_000001.9:g.115028481A>G	NCBI36
NG_008012.1:g.16219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.397T>C	ENSP00000358551.4:p.Cys133Arg
ENST00000520113.7:c.409T>C MANE Select	ENSP00000430075.3:p.Cys137Arg
ENST00000637080.1:c.412T>C	ENSP00000489753.1:p.Cys138Arg
ENST00000639077.1:n.74T>C
ENST00000369538.3:c.496T>C	ENSP00000358551.3:p.Cys166Arg
ENST00000485564.3:n.283T>C
ENST00000520113.6:c.508T>C	ENSP00000430075.2:p.Cys170Arg
NM_000036.2:c.508T>C	NP_000027.2:p.Cys170Arg
NM_001172626.1:c.496T>C	NP_001166097.1:p.Cys166Arg
NM_000036.3:c.409T>C MANE Select	NP_000027.3:p.Cys137Arg
NM_001172626.2:c.397T>C	NP_001166097.2:p.Cys133Arg