Canonical Allele Identifier: CA2576093937

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809641C>T , CM000678.2:g.88809641C>T	GRCh38
NC_000016.9:g.88876049C>T , CM000678.1:g.88876049C>T	GRCh37
NC_000016.8:g.87403550C>T	NCBI36
NG_008013.1:g.7294G>A
NG_028266.1:g.10864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*57G>A MANE Select	ENSP00000367615.3:n.*57G>A
ENST00000378364.7:c.*57G>A	ENSP00000367615.3:n.*57G>A
ENST00000426324.6:c.*61G>A	ENSP00000397007.2:n.*61G>A
ENST00000563655.5:c.*57G>A	ENSP00000456012.1:n.*57G>A
ENST00000567057.5:n.265G>A
ENST00000567391.5:c.*274G>A	ENSP00000457964.1:n.*274G>A
ENST00000567713.5:c.322-106G>A	ENSP00000455749.1:n.322-106G>A
ENST00000568319.5:c.*140G>A	ENSP00000456905.1:n.*140G>A
ENST00000569616.1:c.665G>A
NM_000485.2:c.*57G>A	NP_000476.1:n.*57G>A
NM_001030018.1:c.*61G>A	NP_001025189.1:n.*61G>A
NM_000485.3:c.*57G>A MANE Select	NP_000476.1:n.*57G>A
NM_001030018.2:c.*61G>A	NP_001025189.1:n.*61G>A