Canonical Allele Identifier: CA341748998

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677935-C-T
• COSMIC: COSM4524886 ; COSM4524887
• MyVariant Identifiers: chr1:g.115220556C>T (hg19) ; chr1:g.114677935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677935C>T , CM000663.2:g.114677935C>T	GRCh38
NC_000001.10:g.115220556C>T , CM000663.1:g.115220556C>T	GRCh37
NC_000001.9:g.115022079C>T	NCBI36
NG_008012.1:g.22621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1187G>A	ENSP00000358551.4:p.Gly396Glu
ENST00000520113.7:c.1199G>A MANE Select	ENSP00000430075.3:p.Gly400Glu
ENST00000637080.1:c.982G>A	ENSP00000489753.1:n.982G>A
ENST00000639077.1:n.864G>A
ENST00000369538.3:c.1286G>A	ENSP00000358551.3:p.Gly429Glu
ENST00000520113.6:c.1298G>A	ENSP00000430075.2:p.Gly433Glu
NM_000036.2:c.1298G>A	NP_000027.2:p.Gly433Glu
NM_001172626.1:c.1286G>A	NP_001166097.1:p.Gly429Glu
NM_000036.3:c.1199G>A MANE Select	NP_000027.3:p.Gly400Glu
NM_001172626.2:c.1187G>A	NP_001166097.2:p.Gly396Glu