Canonical Allele Identifier: CA341748619

Gene: AMPD1

Linked Data

• COSMIC: COSM894220 ; COSM1583286
• MyVariant Identifiers: chr1:g.115220071C>A (hg19) ; chr1:g.114677450C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677450C>A , CM000663.2:g.114677450C>A	GRCh38
NC_000001.10:g.115220071C>A , CM000663.1:g.115220071C>A	GRCh37
NC_000001.9:g.115021594C>A	NCBI36
NG_008012.1:g.23106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1277G>T	ENSP00000358551.4:p.Gly426Val
ENST00000520113.7:c.1289G>T MANE Select	ENSP00000430075.3:p.Gly430Val
ENST00000637080.1:c.1072G>T	ENSP00000489753.1:n.1072G>T
ENST00000639077.1:n.954G>T
ENST00000369538.3:c.1376G>T	ENSP00000358551.3:p.Gly459Val
ENST00000520113.6:c.1388G>T	ENSP00000430075.2:p.Gly463Val
NM_000036.2:c.1388G>T	NP_000027.2:p.Gly463Val
NM_001172626.1:c.1376G>T	NP_001166097.1:p.Gly459Val
NM_000036.3:c.1289G>T MANE Select	NP_000027.3:p.Gly430Val
NM_001172626.2:c.1277G>T	NP_001166097.2:p.Gly426Val