Canonical Allele Identifier: CA1020419

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 1544693
• ClinVar RCV Id: RCV002165234
• dbSNP Id: rs374681411
• ExAC: 1:115226863 G / A
• gnomAD v2: 1-115226863-G-A
• gnomAD v3: 1-114684242-G-A
• gnomAD v4: 1-114684242-G-A
• MyVariant Identifiers: chr1:g.115226863G>A (hg19) ; chr1:g.114684242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684242G>A , CM000663.2:g.114684242G>A	GRCh38
NC_000001.10:g.115226863G>A , CM000663.1:g.115226863G>A	GRCh37
NC_000001.9:g.115028386G>A	NCBI36
NG_008012.1:g.16314C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.492C>T	ENSP00000358551.4:p.Asn164=
ENST00000520113.7:c.504C>T MANE Select	ENSP00000430075.3:p.Asn168=
ENST00000637080.1:c.507C>T	ENSP00000489753.1:p.Asn169=
ENST00000639077.1:n.169C>T
ENST00000369538.3:c.591C>T	ENSP00000358551.3:p.Asn197=
ENST00000485564.3:n.378C>T
ENST00000520113.6:c.603C>T	ENSP00000430075.2:p.Asn201=
NM_000036.2:c.603C>T	NP_000027.2:p.Asn201=
NM_001172626.1:c.591C>T	NP_001166097.1:p.Asn197=
NM_000036.3:c.504C>T MANE Select	NP_000027.3:p.Asn168=
NM_001172626.2:c.492C>T	NP_001166097.2:p.Asn164=