Canonical Allele Identifier: CA1190276310

Gene: AMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677463G= , CM000663.2:g.114677463G=	GRCh38
NC_000001.10:g.115220084G= , CM000663.1:g.115220084G=	GRCh37
NC_000001.9:g.115021607G=	NCBI36
NG_008012.1:g.23093C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1264C=	ENSP00000358551.4:p.Leu422=
ENST00000520113.7:c.1276C= MANE Select	ENSP00000430075.3:p.Leu426=
ENST00000637080.1:c.1059C=	ENSP00000489753.1:n.1059C=
ENST00000639077.1:n.941C=
ENST00000369538.3:c.1363C=	ENSP00000358551.3:p.Leu455=
ENST00000520113.6:c.1375C=	ENSP00000430075.2:p.Leu459=
NM_000036.2:c.1375C=	NP_000027.2:p.Leu459=
NM_001172626.1:c.1363C=	NP_001166097.1:p.Leu455=
NM_000036.3:c.1276C= MANE Select	NP_000027.3:p.Leu426=
NM_001172626.2:c.1264C=	NP_001166097.2:p.Leu422=