Canonical Allele Identifier: CA624450518

Gene: APRT

Linked Data

• dbSNP Id: rs1298991144
• gnomAD v2: 16-88876434-C-G
• gnomAD v3: 16-88810026-C-G
• gnomAD v4: 16-88810026-C-G
• MyVariant Identifiers: chr16:g.88876434C>G (hg19) ; chr16:g.88810026C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88810026C>G , CM000678.2:g.88810026C>G	GRCh38
NC_000016.9:g.88876434C>G , CM000678.1:g.88876434C>G	GRCh37
NC_000016.8:g.87403935C>G	NCBI36
NG_008013.1:g.6909G>C
NG_028266.1:g.11249C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378364.8:c.400+44G>C MANE Select	ENSP00000367615.3:n.400+44G>C
ENST00000378364.7:c.400+44G>C	ENSP00000367615.3:n.400+44G>C
ENST00000426324.6:c.400+44G>C	ENSP00000397007.2:n.400+44G>C
ENST00000562464.1:n.410+44G>C
ENST00000563655.5:c.319+44G>C	ENSP00000456012.1:n.319+44G>C
ENST00000567057.5:n.199+44G>C
ENST00000567391.5:c.*74+44G>C	ENSP00000457964.1:n.*74+44G>C
ENST00000567713.5:c.321+397G>C	ENSP00000455749.1:n.321+397G>C
ENST00000568319.5:c.*74+44G>C	ENSP00000456905.1:n.*74+44G>C
ENST00000568575.1:n.329+44G>C
ENST00000569616.1:c.398+44G>C
NM_000485.2:c.400+44G>C	NP_000476.1:n.400+44G>C
NM_001030018.1:c.400+44G>C	NP_001025189.1:n.400+44G>C
NM_000485.3:c.400+44G>C MANE Select	NP_000476.1:n.400+44G>C
NM_001030018.2:c.400+44G>C	NP_001025189.1:n.400+44G>C