Canonical Allele Identifier: CA341748436

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220018T>C (hg19) ; chr1:g.114677397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677397T>C , CM000663.2:g.114677397T>C	GRCh38
NC_000001.10:g.115220018T>C , CM000663.1:g.115220018T>C	GRCh37
NC_000001.9:g.115021541T>C	NCBI36
NG_008012.1:g.23159A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1330A>G	ENSP00000358551.4:p.Ile444Val
ENST00000520113.7:c.1342A>G MANE Select	ENSP00000430075.3:p.Ile448Val
ENST00000637080.1:c.1125A>G	ENSP00000489753.1:n.1125A>G
ENST00000639077.1:n.1007A>G
ENST00000369538.3:c.1429A>G	ENSP00000358551.3:p.Ile477Val
ENST00000520113.6:c.1441A>G	ENSP00000430075.2:p.Ile481Val
NM_000036.2:c.1441A>G	NP_000027.2:p.Ile481Val
NM_001172626.1:c.1429A>G	NP_001166097.1:p.Ile477Val
NM_000036.3:c.1342A>G MANE Select	NP_000027.3:p.Ile448Val
NM_001172626.2:c.1330A>G	NP_001166097.2:p.Ile444Val