Canonical Allele Identifier: CA1020155

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 2419774
• ClinVar RCV Id: RCV003115659
• dbSNP Id: rs766228935
• ExAC: 1:115220031 G / A
• gnomAD v2: 1-115220031-G-A
• gnomAD v3: 1-114677410-G-A
• gnomAD v4: 1-114677410-G-A
• COSMIC: COSM3417897 ; COSM3417898
• MyVariant Identifiers: chr1:g.115220031G>A (hg19) ; chr1:g.114677410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677410G>A , CM000663.2:g.114677410G>A	GRCh38
NC_000001.10:g.115220031G>A , CM000663.1:g.115220031G>A	GRCh37
NC_000001.9:g.115021554G>A	NCBI36
NG_008012.1:g.23146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1317C>T	ENSP00000358551.4:p.Phe439=
ENST00000520113.7:c.1329C>T MANE Select	ENSP00000430075.3:p.Phe443=
ENST00000637080.1:c.1112C>T	ENSP00000489753.1:n.1112C>T
ENST00000639077.1:n.994C>T
ENST00000369538.3:c.1416C>T	ENSP00000358551.3:p.Phe472=
ENST00000520113.6:c.1428C>T	ENSP00000430075.2:p.Phe476=
NM_000036.2:c.1428C>T	NP_000027.2:p.Phe476=
NM_001172626.1:c.1416C>T	NP_001166097.1:p.Phe472=
NM_000036.3:c.1329C>T MANE Select	NP_000027.3:p.Phe443=
NM_001172626.2:c.1317C>T	NP_001166097.2:p.Phe439=