Canonical Allele Identifier: CA341735178

Gene: AMPD1

Linked Data

• dbSNP Id: rs1208930075
• gnomAD v2: 1-115236063-C-G
• gnomAD v4: 1-114693442-C-G
• MyVariant Identifiers: chr1:g.115236063C>G (hg19) ; chr1:g.114693442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114693442C>G , CM000663.2:g.114693442C>G	GRCh38
NC_000001.10:g.115236063C>G , CM000663.1:g.115236063C>G	GRCh37
NC_000001.9:g.115037586C>G	NCBI36
NG_008012.1:g.7114G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.22+2008G>C	ENSP00000358551.4:n.22+2008G>C
ENST00000520113.7:c.28G>C MANE Select	ENSP00000430075.3:p.Glu10Gln
ENST00000637080.1:c.37+1995G>C	ENSP00000489753.1:n.37+1995G>C
ENST00000369538.3:c.121+2008G>C	ENSP00000358551.3:n.121+2008G>C
ENST00000520113.6:c.127G>C	ENSP00000430075.2:p.Glu43Gln
NM_000036.2:c.127G>C	NP_000027.2:p.Glu43Gln
NM_001172626.1:c.121+2008G>C	NP_001166097.1:n.121+2008G>C
NM_000036.3:c.28G>C MANE Select	NP_000027.3:p.Glu10Gln
NM_001172626.2:c.22+2008G>C	NP_001166097.2:n.22+2008G>C