Canonical Allele Identifier: CA341749234

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114678041-C-T
• MyVariant Identifiers: chr1:g.115220662C>T (hg19) ; chr1:g.114678041C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114678041C>T , CM000663.2:g.114678041C>T	GRCh38
NC_000001.10:g.115220662C>T , CM000663.1:g.115220662C>T	GRCh37
NC_000001.9:g.115022185C>T	NCBI36
NG_008012.1:g.22515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1081G>A	ENSP00000358551.4:p.Gly361Arg
ENST00000520113.7:c.1093G>A MANE Select	ENSP00000430075.3:p.Gly365Arg
ENST00000637080.1:c.876G>A	ENSP00000489753.1:n.876G>A
ENST00000639077.1:n.758G>A
ENST00000369538.3:c.1180G>A	ENSP00000358551.3:p.Gly394Arg
ENST00000520113.6:c.1192G>A	ENSP00000430075.2:p.Gly398Arg
NM_000036.2:c.1192G>A	NP_000027.2:p.Gly398Arg
NM_001172626.1:c.1180G>A	NP_001166097.1:p.Gly394Arg
NM_000036.3:c.1093G>A MANE Select	NP_000027.3:p.Gly365Arg
NM_001172626.2:c.1081G>A	NP_001166097.2:p.Gly361Arg