Canonical Allele Identifier: CA397087363

Gene: APRT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809834A>T , CM000678.2:g.88809834A>T	GRCh38
NC_000016.9:g.88876242A>T , CM000678.1:g.88876242A>T	GRCh37
NC_000016.8:g.87403743A>T	NCBI36
NG_008013.1:g.7101T>A
NG_028266.1:g.11057A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000485.3:c.407T>A MANE Select	NP_000476.1:p.Met136Lys
ENST00000378364.8:c.407T>A MANE Select	ENSP00000367615.3:p.Met136Lys
NM_000485.2:c.407T>A	NP_000476.1:p.Met136Lys
NM_001030018.1:c.401-128T>A	NP_001025189.1:n.401-128T>A
NM_001030018.2:c.401-128T>A	NP_001025189.1:n.401-128T>A
ENST00000378364.7:c.407T>A	ENSP00000367615.3:p.Met136Lys
ENST00000426324.6:c.401-128T>A	ENSP00000397007.2:n.401-128T>A
ENST00000562464.1:n.417T>A
ENST00000563655.5:c.326T>A	ENSP00000456012.1:p.Met109Lys
ENST00000567057.5:n.200-128T>A
ENST00000567391.5:c.*81T>A	ENSP00000457964.1:n.*81T>A
ENST00000567713.5:c.322-299T>A	ENSP00000455749.1:n.322-299T>A
ENST00000568319.5:c.*75-128T>A	ENSP00000456905.1:n.*75-128T>A
ENST00000568575.1:n.336T>A
ENST00000569616.1:c.472T>A