Canonical Allele Identifier: CA1020408

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 1515534
• ClinVar RCV Id: RCV002048534
• dbSNP Id: rs777043982
• ExAC: 1:115226829 A / G
• gnomAD v2: 1-115226829-A-G
• gnomAD v3: 1-114684208-A-G
• gnomAD v4: 1-114684208-A-G
• MyVariant Identifiers: chr1:g.115226829A>G (hg19) ; chr1:g.114684208A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684208A>G , CM000663.2:g.114684208A>G	GRCh38
NC_000001.10:g.115226829A>G , CM000663.1:g.115226829A>G	GRCh37
NC_000001.9:g.115028352A>G	NCBI36
NG_008012.1:g.16348T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.526T>C	ENSP00000358551.4:p.Phe176Leu
ENST00000520113.7:c.538T>C MANE Select	ENSP00000430075.3:p.Phe180Leu
ENST00000637080.1:c.541T>C	ENSP00000489753.1:p.Phe181Leu
ENST00000639077.1:n.203T>C
ENST00000369538.3:c.625T>C	ENSP00000358551.3:p.Phe209Leu
ENST00000485564.3:n.412T>C
ENST00000520113.6:c.637T>C	ENSP00000430075.2:p.Phe213Leu
NM_000036.2:c.637T>C	NP_000027.2:p.Phe213Leu
NM_001172626.1:c.625T>C	NP_001166097.1:p.Phe209Leu
NM_000036.3:c.538T>C MANE Select	NP_000027.3:p.Phe180Leu
NM_001172626.2:c.526T>C	NP_001166097.2:p.Phe176Leu