Canonical Allele Identifier: CA1020425

Gene: AMPD1

Linked Data

• dbSNP Id: rs775788519
• ExAC: 1:115226907 A / G
• gnomAD v2: 1-115226907-A-G
• gnomAD v3: 1-114684286-A-G
• gnomAD v4: 1-114684286-A-G
• MyVariant Identifiers: chr1:g.115226907A>G (hg19) ; chr1:g.114684286A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684286A>G , CM000663.2:g.114684286A>G	GRCh38
NC_000001.10:g.115226907A>G , CM000663.1:g.115226907A>G	GRCh37
NC_000001.9:g.115028430A>G	NCBI36
NG_008012.1:g.16270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.448T>C	ENSP00000358551.4:p.Ser150Pro
ENST00000520113.7:c.460T>C MANE Select	ENSP00000430075.3:p.Ser154Pro
ENST00000637080.1:c.463T>C	ENSP00000489753.1:p.Ser155Pro
ENST00000639077.1:n.125T>C
ENST00000369538.3:c.547T>C	ENSP00000358551.3:p.Ser183Pro
ENST00000485564.3:n.334T>C
ENST00000520113.6:c.559T>C	ENSP00000430075.2:p.Ser187Pro
NM_000036.2:c.559T>C	NP_000027.2:p.Ser187Pro
NM_001172626.1:c.547T>C	NP_001166097.1:p.Ser183Pro
NM_000036.3:c.460T>C MANE Select	NP_000027.3:p.Ser154Pro
NM_001172626.2:c.448T>C	NP_001166097.2:p.Ser150Pro