Canonical Allele Identifier: CA397087775

Gene: APRT

Linked Data

• MyVariant Identifiers: chr16:g.88876504A>G (hg19) ; chr16:g.88810096A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810096A>G , CM000678.2:g.88810096A>G	GRCh38
NC_000016.9:g.88876504A>G , CM000678.1:g.88876504A>G	GRCh37
NC_000016.8:g.87404005A>G	NCBI36
NG_008013.1:g.6839T>C
NG_028266.1:g.11319A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.374T>C MANE Select	ENSP00000367615.3:p.Val125Ala
ENST00000378364.7:c.374T>C	ENSP00000367615.3:p.Val125Ala
ENST00000426324.6:c.374T>C	ENSP00000397007.2:p.Val125Ala
ENST00000562464.1:n.384T>C
ENST00000563655.5:c.293T>C	ENSP00000456012.1:p.Val98Ala
ENST00000567057.5:n.173T>C
ENST00000567391.5:c.*48T>C	ENSP00000457964.1:n.*48T>C
ENST00000567713.5:c.321+327T>C	ENSP00000455749.1:n.321+327T>C
ENST00000568319.5:c.*48T>C	ENSP00000456905.1:n.*48T>C
ENST00000568575.1:n.303T>C
ENST00000569616.1:c.372T>C
NM_000485.2:c.374T>C	NP_000476.1:p.Val125Ala
NM_001030018.1:c.374T>C	NP_001025189.1:p.Val125Ala
NM_000485.3:c.374T>C MANE Select	NP_000476.1:p.Val125Ala
NM_001030018.2:c.374T>C	NP_001025189.1:p.Val125Ala