Canonical Allele Identifier: CA2241308116

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810090T= , CM000678.2:g.88810090T=	GRCh38
NC_000016.9:g.88876498T= , CM000678.1:g.88876498T=	GRCh37
NC_000016.8:g.87403999T=	NCBI36
NG_008013.1:g.6845A=
NG_028266.1:g.11313T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.380A= MANE Select	ENSP00000367615.3:p.Asp127=
ENST00000378364.7:c.380A=	ENSP00000367615.3:p.Asp127=
ENST00000426324.6:c.380A=	ENSP00000397007.2:p.Asp127=
ENST00000562464.1:n.390A=
ENST00000563655.5:c.299A=	ENSP00000456012.1:p.Asp100=
ENST00000567057.5:n.179A=
ENST00000567391.5:c.*54A=	ENSP00000457964.1:n.*54A=
ENST00000567713.5:c.321+333A=	ENSP00000455749.1:n.321+333A=
ENST00000568319.5:c.*54A=	ENSP00000456905.1:n.*54A=
ENST00000568575.1:n.309A=
ENST00000569616.1:c.378A=
NM_000485.2:c.380A=	NP_000476.1:p.Asp127=
NM_001030018.1:c.380A=	NP_001025189.1:p.Asp127=
NM_000485.3:c.380A= MANE Select	NP_000476.1:p.Asp127=
NM_001030018.2:c.380A=	NP_001025189.1:p.Asp127=