Canonical Allele Identifier: CA1020304

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 1460631
• ClinVar RCV Id: RCV001951692 ; RCV003289308
• dbSNP Id: rs768332999
• ExAC: 1:115222313 G / A
• gnomAD v2: 1-115222313-G-A
• gnomAD v3: 1-114679692-G-A
• gnomAD v4: 1-114679692-G-A
• MyVariant Identifiers: chr1:g.115222313G>A (hg19) ; chr1:g.114679692G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679692G>A , CM000663.2:g.114679692G>A	GRCh38
NC_000001.10:g.115222313G>A , CM000663.1:g.115222313G>A	GRCh37
NC_000001.9:g.115023836G>A	NCBI36
NG_008012.1:g.20864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.772C>T	ENSP00000358551.4:p.Arg258Trp
ENST00000520113.7:c.784C>T MANE Select	ENSP00000430075.3:p.Arg262Trp
ENST00000637080.1:c.567C>T	ENSP00000489753.1:p.Thr189=
ENST00000639077.1:n.449C>T
ENST00000369538.3:c.871C>T	ENSP00000358551.3:p.Arg291Trp
ENST00000485564.3:n.438C>T
ENST00000520113.6:c.883C>T	ENSP00000430075.2:p.Arg295Trp
NM_000036.2:c.883C>T	NP_000027.2:p.Arg295Trp
NM_001172626.1:c.871C>T	NP_001166097.1:p.Arg291Trp
NM_000036.3:c.784C>T MANE Select	NP_000027.3:p.Arg262Trp
NM_001172626.2:c.772C>T	NP_001166097.2:p.Arg258Trp