Canonical Allele Identifier: CA1020406

Gene: AMPD1

Linked Data

• dbSNP Id: rs747643618
• ExAC: 1:115226822 G / A
• gnomAD v2: 1-115226822-G-A
• gnomAD v3: 1-114684201-G-A
• gnomAD v4: 1-114684201-G-A
• MyVariant Identifiers: chr1:g.115226822G>A (hg19) ; chr1:g.114684201G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684201G>A , CM000663.2:g.114684201G>A	GRCh38
NC_000001.10:g.115226822G>A , CM000663.1:g.115226822G>A	GRCh37
NC_000001.9:g.115028345G>A	NCBI36
NG_008012.1:g.16355C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.533C>T	ENSP00000358551.4:p.Pro178Leu
ENST00000520113.7:c.545C>T MANE Select	ENSP00000430075.3:p.Pro182Leu
ENST00000637080.1:c.548C>T	ENSP00000489753.1:p.Pro183Leu
ENST00000639077.1:n.210C>T
ENST00000369538.3:c.632C>T	ENSP00000358551.3:p.Pro211Leu
ENST00000485564.3:n.419C>T
ENST00000520113.6:c.644C>T	ENSP00000430075.2:p.Pro215Leu
NM_000036.2:c.644C>T	NP_000027.2:p.Pro215Leu
NM_001172626.1:c.632C>T	NP_001166097.1:p.Pro211Leu
NM_000036.3:c.545C>T MANE Select	NP_000027.3:p.Pro182Leu
NM_001172626.2:c.533C>T	NP_001166097.2:p.Pro178Leu