Canonical Allele Identifier: CA397086106

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876117G>C (hg19) ; chr16:g.88809709G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809709G>C , CM000678.2:g.88809709G>C	GRCh38
NC_000016.9:g.88876117G>C , CM000678.1:g.88876117G>C	GRCh37
NC_000016.8:g.87403618G>C	NCBI36
NG_008013.1:g.7226C>G
NG_028266.1:g.10932G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.532C>G MANE Select	ENSP00000367615.3:p.Gln178Glu
ENST00000378364.7:c.532C>G	ENSP00000367615.3:p.Gln178Glu
ENST00000426324.6:c.401-3C>G	ENSP00000397007.2:n.401-3C>G
ENST00000563655.5:c.451C>G	ENSP00000456012.1:p.Gln151Glu
ENST00000567057.5:n.200-3C>G
ENST00000567391.5:c.*206C>G	ENSP00000457964.1:n.*206C>G
ENST00000567713.5:c.322-174C>G	ENSP00000455749.1:n.322-174C>G
ENST00000568319.5:c.*75-3C>G	ENSP00000456905.1:n.*75-3C>G
ENST00000568575.1:n.461C>G
ENST00000569616.1:c.597C>G
NM_000485.2:c.532C>G	NP_000476.1:p.Gln178Glu
NM_001030018.1:c.401-3C>G	NP_001025189.1:n.401-3C>G
NM_000485.3:c.532C>G MANE Select	NP_000476.1:p.Gln178Glu
NM_001030018.2:c.401-3C>G	NP_001025189.1:n.401-3C>G