Canonical Allele Identifier: CA2241308113

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810085G= , CM000678.2:g.88810085G=	GRCh38
NC_000016.9:g.88876493G= , CM000678.1:g.88876493G=	GRCh37
NC_000016.8:g.87403994G=	NCBI36
NG_008013.1:g.6850C=
NG_028266.1:g.11308G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.385C= MANE Select	ENSP00000367615.3:p.Leu129=
ENST00000378364.7:c.385C=	ENSP00000367615.3:p.Leu129=
ENST00000426324.6:c.385C=	ENSP00000397007.2:p.Leu129=
ENST00000562464.1:n.395C=
ENST00000563655.5:c.304C=	ENSP00000456012.1:p.Leu102=
ENST00000567057.5:n.184C=
ENST00000567391.5:c.*59C=	ENSP00000457964.1:n.*59C=
ENST00000567713.5:c.321+338C=	ENSP00000455749.1:n.321+338C=
ENST00000568319.5:c.*59C=	ENSP00000456905.1:n.*59C=
ENST00000568575.1:n.314C=
ENST00000569616.1:c.383C=
NM_000485.2:c.385C=	NP_000476.1:p.Leu129=
NM_001030018.1:c.385C=	NP_001025189.1:p.Leu129=
NM_000485.3:c.385C= MANE Select	NP_000476.1:p.Leu129=
NM_001030018.2:c.385C=	NP_001025189.1:p.Leu129=