Canonical Allele Identifier: CA397086140

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809717G>A , CM000678.2:g.88809717G>A	GRCh38
NC_000016.9:g.88876125G>A , CM000678.1:g.88876125G>A	GRCh37
NC_000016.8:g.87403626G>A	NCBI36
NG_008013.1:g.7218C>T
NG_028266.1:g.10940G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.524C>T MANE Select	NP_000476.1:p.Ser175Phe
ENST00000378364.8:c.524C>T MANE Select	ENSP00000367615.3:p.Ser175Phe
NM_000485.2:c.524C>T	NP_000476.1:p.Ser175Phe
NM_001030018.1:c.401-11C>T	NP_001025189.1:n.401-11C>T
NM_001030018.2:c.401-11C>T	NP_001025189.1:n.401-11C>T
ENST00000378364.7:c.524C>T	ENSP00000367615.3:p.Ser175Phe
ENST00000426324.6:c.401-11C>T	ENSP00000397007.2:n.401-11C>T
ENST00000563655.5:c.443C>T	ENSP00000456012.1:p.Ser148Phe
ENST00000567057.5:n.200-11C>T
ENST00000567391.5:c.*198C>T	ENSP00000457964.1:n.*198C>T
ENST00000567713.5:c.322-182C>T	ENSP00000455749.1:n.322-182C>T
ENST00000568319.5:c.*75-11C>T	ENSP00000456905.1:n.*75-11C>T
ENST00000568575.1:n.453C>T
ENST00000569616.1:c.589C>T