Canonical Allele Identifier: CA341750076

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222248T>A (hg19) ; chr1:g.114679627T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679627T>A , CM000663.2:g.114679627T>A	GRCh38
NC_000001.10:g.115222248T>A , CM000663.1:g.115222248T>A	GRCh37
NC_000001.9:g.115023771T>A	NCBI36
NG_008012.1:g.20929A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.837A>T	ENSP00000358551.4:p.Leu279Phe
ENST00000520113.7:c.849A>T MANE Select	ENSP00000430075.3:p.Leu283Phe
ENST00000637080.1:c.632A>T	ENSP00000489753.1:n.632A>T
ENST00000639077.1:n.514A>T
ENST00000369538.3:c.936A>T	ENSP00000358551.3:p.Leu312Phe
ENST00000520113.6:c.948A>T	ENSP00000430075.2:p.Leu316Phe
NM_000036.2:c.948A>T	NP_000027.2:p.Leu316Phe
NM_001172626.1:c.936A>T	NP_001166097.1:p.Leu312Phe
NM_000036.3:c.849A>T MANE Select	NP_000027.3:p.Leu283Phe
NM_001172626.2:c.837A>T	NP_001166097.2:p.Leu279Phe