Canonical Allele Identifier: CA341748442

Gene: AMPD1

Linked Data

• dbSNP Id: rs1344319121
• gnomAD v2: 1-115220021-G-A
• gnomAD v4: 1-114677400-G-A
• COSMIC: COSM2177362 ; COSM2177363
• MyVariant Identifiers: chr1:g.115220021G>A (hg19) ; chr1:g.114677400G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677400G>A , CM000663.2:g.114677400G>A	GRCh38
NC_000001.10:g.115220021G>A , CM000663.1:g.115220021G>A	GRCh37
NC_000001.9:g.115021544G>A	NCBI36
NG_008012.1:g.23156C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1327C>T	ENSP00000358551.4:p.Arg443Cys
ENST00000520113.7:c.1339C>T MANE Select	ENSP00000430075.3:p.Arg447Cys
ENST00000637080.1:c.1122C>T	ENSP00000489753.1:n.1122C>T
ENST00000639077.1:n.1004C>T
ENST00000369538.3:c.1426C>T	ENSP00000358551.3:p.Arg476Cys
ENST00000520113.6:c.1438C>T	ENSP00000430075.2:p.Arg480Cys
NM_000036.2:c.1438C>T	NP_000027.2:p.Arg480Cys
NM_001172626.1:c.1426C>T	NP_001166097.1:p.Arg476Cys
NM_000036.3:c.1339C>T MANE Select	NP_000027.3:p.Arg447Cys
NM_001172626.2:c.1327C>T	NP_001166097.2:p.Arg443Cys