Canonical Allele Identifier: CA2241308111

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810083C= , CM000678.2:g.88810083C=	GRCh38
NC_000016.9:g.88876491C= , CM000678.1:g.88876491C=	GRCh37
NC_000016.8:g.87403992C=	NCBI36
NG_008013.1:g.6852G=
NG_028266.1:g.11306C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.387G= MANE Select	ENSP00000367615.3:p.Leu129=
ENST00000378364.7:c.387G=	ENSP00000367615.3:p.Leu129=
ENST00000426324.6:c.387G=	ENSP00000397007.2:p.Leu129=
ENST00000562464.1:n.397G=
ENST00000563655.5:c.306G=	ENSP00000456012.1:p.Leu102=
ENST00000567057.5:n.186G=
ENST00000567391.5:c.*61G=	ENSP00000457964.1:n.*61G=
ENST00000567713.5:c.321+340G=	ENSP00000455749.1:n.321+340G=
ENST00000568319.5:c.*61G=	ENSP00000456905.1:n.*61G=
ENST00000568575.1:n.316G=
ENST00000569616.1:c.385G=
NM_000485.2:c.387G=	NP_000476.1:p.Leu129=
NM_001030018.1:c.387G=	NP_001025189.1:p.Leu129=
NM_000485.3:c.387G= MANE Select	NP_000476.1:p.Leu129=
NM_001030018.2:c.387G=	NP_001025189.1:p.Leu129=