Canonical Allele Identifier: CA341749083

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220593G>C (hg19) ; chr1:g.114677972G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677972G>C , CM000663.2:g.114677972G>C	GRCh38
NC_000001.10:g.115220593G>C , CM000663.1:g.115220593G>C	GRCh37
NC_000001.9:g.115022116G>C	NCBI36
NG_008012.1:g.22584C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1150C>G	ENSP00000358551.4:p.Arg384Gly
ENST00000520113.7:c.1162C>G MANE Select	ENSP00000430075.3:p.Arg388Gly
ENST00000637080.1:c.945C>G	ENSP00000489753.1:n.945C>G
ENST00000639077.1:n.827C>G
ENST00000369538.3:c.1249C>G	ENSP00000358551.3:p.Arg417Gly
ENST00000520113.6:c.1261C>G	ENSP00000430075.2:p.Arg421Gly
NM_000036.2:c.1261C>G	NP_000027.2:p.Arg421Gly
NM_001172626.1:c.1249C>G	NP_001166097.1:p.Arg417Gly
NM_000036.3:c.1162C>G MANE Select	NP_000027.3:p.Arg388Gly
NM_001172626.2:c.1150C>G	NP_001166097.2:p.Arg384Gly