Canonical Allele Identifier: CA397086137

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809715G>A , CM000678.2:g.88809715G>A	GRCh38
NC_000016.9:g.88876123G>A , CM000678.1:g.88876123G>A	GRCh37
NC_000016.8:g.87403624G>A	NCBI36
NG_008013.1:g.7220C>T
NG_028266.1:g.10938G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.526C>T MANE Select	NP_000476.1:p.Leu176Phe
ENST00000378364.8:c.526C>T MANE Select	ENSP00000367615.3:p.Leu176Phe
NM_000485.2:c.526C>T	NP_000476.1:p.Leu176Phe
NM_001030018.1:c.401-9C>T	NP_001025189.1:n.401-9C>T
NM_001030018.2:c.401-9C>T	NP_001025189.1:n.401-9C>T
ENST00000378364.7:c.526C>T	ENSP00000367615.3:p.Leu176Phe
ENST00000426324.6:c.401-9C>T	ENSP00000397007.2:n.401-9C>T
ENST00000563655.5:c.445C>T	ENSP00000456012.1:p.Leu149Phe
ENST00000567057.5:n.200-9C>T
ENST00000567391.5:c.*200C>T	ENSP00000457964.1:n.*200C>T
ENST00000567713.5:c.322-180C>T	ENSP00000455749.1:n.322-180C>T
ENST00000568319.5:c.*75-9C>T	ENSP00000456905.1:n.*75-9C>T
ENST00000568575.1:n.455C>T
ENST00000569616.1:c.591C>T