Canonical Allele Identifier: CA397086034

Gene: APRT

Linked Data

• gnomAD v4: 16-88809700-A-C
• MyVariant Identifiers: chr16:g.88876108A>C (hg19) ; chr16:g.88809700A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809700A>C , CM000678.2:g.88809700A>C	GRCh38
NC_000016.9:g.88876108A>C , CM000678.1:g.88876108A>C	GRCh37
NC_000016.8:g.87403609A>C	NCBI36
NG_008013.1:g.7235T>G
NG_028266.1:g.10923A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.541T>G MANE Select	ENSP00000367615.3:p.Ter181Gly
ENST00000378364.7:c.541T>G	ENSP00000367615.3:p.Ter181Gly
ENST00000426324.6:c.*2T>G	ENSP00000397007.2:n.*2T>G
ENST00000563655.5:c.460T>G	ENSP00000456012.1:p.Ter154Gly
ENST00000567057.5:n.206T>G
ENST00000567391.5:c.*215T>G	ENSP00000457964.1:n.*215T>G
ENST00000567713.5:c.322-165T>G	ENSP00000455749.1:n.322-165T>G
ENST00000568319.5:c.*81T>G	ENSP00000456905.1:n.*81T>G
ENST00000568575.1:n.470T>G
ENST00000569616.1:c.606T>G
NM_000485.2:c.541T>G	NP_000476.1:p.Ter181Gly
NM_001030018.1:c.*2T>G	NP_001025189.1:n.*2T>G
NM_000485.3:c.541T>G MANE Select	NP_000476.1:p.Ter181Gly
NM_001030018.2:c.*2T>G	NP_001025189.1:n.*2T>G