Canonical Allele Identifier: CA1020429

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 1372895
• ClinVar RCV Id: RCV001874914
• dbSNP Id: rs147035391
• ExAC: 1:115226928 G / A
• gnomAD v2: 1-115226928-G-A
• gnomAD v3: 1-114684307-G-A
• gnomAD v4: 1-114684307-G-A
• MyVariant Identifiers: chr1:g.115226928G>A (hg19) ; chr1:g.114684307G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684307G>A , CM000663.2:g.114684307G>A	GRCh38
NC_000001.10:g.115226928G>A , CM000663.1:g.115226928G>A	GRCh37
NC_000001.9:g.115028451G>A	NCBI36
NG_008012.1:g.16249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.427C>T	ENSP00000358551.4:p.Arg143Cys
ENST00000520113.7:c.439C>T MANE Select	ENSP00000430075.3:p.Arg147Cys
ENST00000637080.1:c.442C>T	ENSP00000489753.1:p.Arg148Cys
ENST00000639077.1:n.104C>T
ENST00000369538.3:c.526C>T	ENSP00000358551.3:p.Arg176Cys
ENST00000485564.3:n.313C>T
ENST00000520113.6:c.538C>T	ENSP00000430075.2:p.Arg180Cys
NM_000036.2:c.538C>T	NP_000027.2:p.Arg180Cys
NM_001172626.1:c.526C>T	NP_001166097.1:p.Arg176Cys
NM_000036.3:c.439C>T MANE Select	NP_000027.3:p.Arg147Cys
NM_001172626.2:c.427C>T	NP_001166097.2:p.Arg143Cys