Canonical Allele Identifier: CA286422724

Gene: APRT

Linked Data

• dbSNP Id: rs921715895
• gnomAD v3: 16-88809640-C-A
• gnomAD v4: 16-88809640-C-A
• MyVariant Identifiers: chr16:g.88876048C>A (hg19) ; chr16:g.88809640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88809640C>A , CM000678.2:g.88809640C>A	GRCh38
NC_000016.9:g.88876048C>A , CM000678.1:g.88876048C>A	GRCh37
NC_000016.8:g.87403549C>A	NCBI36
NG_008013.1:g.7295G>T
NG_028266.1:g.10863C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.*58G>T MANE Select	ENSP00000367615.3:n.*58G>T
ENST00000378364.7:c.*58G>T	ENSP00000367615.3:n.*58G>T
ENST00000426324.6:c.*62G>T	ENSP00000397007.2:n.*62G>T
ENST00000563655.5:c.*58G>T	ENSP00000456012.1:n.*58G>T
ENST00000567057.5:n.266G>T
ENST00000567391.5:c.*275G>T	ENSP00000457964.1:n.*275G>T
ENST00000567713.5:c.322-105G>T	ENSP00000455749.1:n.322-105G>T
ENST00000568319.5:c.*141G>T	ENSP00000456905.1:n.*141G>T
ENST00000569616.1:c.666G>T
NM_000485.2:c.*58G>T	NP_000476.1:n.*58G>T
NM_001030018.1:c.*62G>T	NP_001025189.1:n.*62G>T
NM_000485.3:c.*58G>T MANE Select	NP_000476.1:n.*58G>T
NM_001030018.2:c.*62G>T	NP_001025189.1:n.*62G>T