Canonical Allele Identifier: CA341752449

Gene: AMPD1

Linked Data

• dbSNP Id: rs1301192793
• gnomAD v2: 1-115226862-T-C
• gnomAD v4: 1-114684241-T-C
• MyVariant Identifiers: chr1:g.115226862T>C (hg19) ; chr1:g.114684241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684241T>C , CM000663.2:g.114684241T>C	GRCh38
NC_000001.10:g.115226862T>C , CM000663.1:g.115226862T>C	GRCh37
NC_000001.9:g.115028385T>C	NCBI36
NG_008012.1:g.16315A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.493A>G	ENSP00000358551.4:p.Ile165Val
ENST00000520113.7:c.505A>G MANE Select	ENSP00000430075.3:p.Ile169Val
ENST00000637080.1:c.508A>G	ENSP00000489753.1:p.Ile170Val
ENST00000639077.1:n.170A>G
ENST00000369538.3:c.592A>G	ENSP00000358551.3:p.Ile198Val
ENST00000485564.3:n.379A>G
ENST00000520113.6:c.604A>G	ENSP00000430075.2:p.Ile202Val
NM_000036.2:c.604A>G	NP_000027.2:p.Ile202Val
NM_001172626.1:c.592A>G	NP_001166097.1:p.Ile198Val
NM_000036.3:c.505A>G MANE Select	NP_000027.3:p.Ile169Val
NM_001172626.2:c.493A>G	NP_001166097.2:p.Ile165Val