Canonical Allele Identifier: CA497083686

Gene: APRT

Linked Data

• gnomAD v4: 16-88809710-C-A
• MyVariant Identifiers: chr16:g.88876118C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809710C>A , CM000678.2:g.88809710C>A	GRCh38
NC_000016.9:g.88876118C>A , CM000678.1:g.88876118C>A	GRCh37
NC_000016.8:g.87403619C>A	NCBI36
NG_008013.1:g.7225G>T
NG_028266.1:g.10933C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.531G>T MANE Select	ENSP00000367615.3:p.Leu177=
ENST00000378364.7:c.531G>T	ENSP00000367615.3:p.Leu177=
ENST00000426324.6:c.401-4G>T	ENSP00000397007.2:n.401-4G>T
ENST00000563655.5:c.450G>T	ENSP00000456012.1:p.Leu150=
ENST00000567057.5:n.200-4G>T
ENST00000567391.5:c.*205G>T	ENSP00000457964.1:n.*205G>T
ENST00000567713.5:c.322-175G>T	ENSP00000455749.1:n.322-175G>T
ENST00000568319.5:c.*75-4G>T	ENSP00000456905.1:n.*75-4G>T
ENST00000568575.1:n.460G>T
ENST00000569616.1:c.596G>T
NM_000485.2:c.531G>T	NP_000476.1:p.Leu177=
NM_001030018.1:c.401-4G>T	NP_001025189.1:n.401-4G>T
NM_000485.3:c.531G>T MANE Select	NP_000476.1:p.Leu177=
NM_001030018.2:c.401-4G>T	NP_001025189.1:n.401-4G>T