Canonical Allele Identifier: CA341750082

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222250A>T (hg19) ; chr1:g.114679629A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679629A>T , CM000663.2:g.114679629A>T	GRCh38
NC_000001.10:g.115222250A>T , CM000663.1:g.115222250A>T	GRCh37
NC_000001.9:g.115023773A>T	NCBI36
NG_008012.1:g.20927T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.835T>A	ENSP00000358551.4:p.Leu279Ile
ENST00000520113.7:c.847T>A MANE Select	ENSP00000430075.3:p.Leu283Ile
ENST00000637080.1:c.630T>A	ENSP00000489753.1:n.630T>A
ENST00000639077.1:n.512T>A
ENST00000369538.3:c.934T>A	ENSP00000358551.3:p.Leu312Ile
ENST00000520113.6:c.946T>A	ENSP00000430075.2:p.Leu316Ile
NM_000036.2:c.946T>A	NP_000027.2:p.Leu316Ile
NM_001172626.1:c.934T>A	NP_001166097.1:p.Leu312Ile
NM_000036.3:c.847T>A MANE Select	NP_000027.3:p.Leu283Ile
NM_001172626.2:c.835T>A	NP_001166097.2:p.Leu279Ile