Canonical Allele Identifier: CA1190276297

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677423A= , CM000663.2:g.114677423A=	GRCh38
NC_000001.10:g.115220044A= , CM000663.1:g.115220044A=	GRCh37
NC_000001.9:g.115021567A=	NCBI36
NG_008012.1:g.23133T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1304T=	ENSP00000358551.4:p.Leu435=
ENST00000520113.7:c.1316T= MANE Select	ENSP00000430075.3:p.Leu439=
ENST00000637080.1:c.1099T=	ENSP00000489753.1:n.1099T=
ENST00000639077.1:n.981T=
ENST00000369538.3:c.1403T=	ENSP00000358551.3:p.Leu468=
ENST00000520113.6:c.1415T=	ENSP00000430075.2:p.Leu472=
NM_000036.2:c.1415T=	NP_000027.2:p.Leu472=
NM_001172626.1:c.1403T=	NP_001166097.1:p.Leu468=
NM_000036.3:c.1316T= MANE Select	NP_000027.3:p.Leu439=
NM_001172626.2:c.1304T=	NP_001166097.2:p.Leu435=