Canonical Allele Identifier: CA341392847

Gene: GPR88

Linked Data

• dbSNP Id: rs1188321053
• gnomAD v2: 1-101005489-C-G
• gnomAD v4: 1-100539933-C-G
• MyVariant Identifiers: chr1:g.101005489C>G (hg19) ; chr1:g.100539933C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.100539933C>G , CM000663.2:g.100539933C>G	GRCh38
NC_000001.10:g.101005489C>G , CM000663.1:g.101005489C>G	GRCh37
NC_000001.9:g.100778077C>G	NCBI36
NG_053134.1:g.6762C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315033.5:c.967C>G MANE Select	ENSP00000314223.4:p.Leu323Val
ENST00000315033.4:c.967C>G	ENSP00000314223.4:p.Leu323Val
NM_022049.2:c.967C>G	NP_071332.2:p.Leu323Val
NM_022049.3:c.967C>G MANE Select	NP_071332.2:p.Leu323Val