Canonical Allele Identifier: CA971145
Gene: GPR88 HGNC NCBI

Linked Data

ClinVar Variation Id: 1939567
ClinVar RCV Id: RCV002650065
dbSNP Id: rs769673609
ExAC: 1:101005515 C / T
gnomAD v2: 1-101005515-C-T
gnomAD v4: 1-100539959-C-T
MyVariant Identifiers: chr1:g.101005515C>T (hg19) chr1:g.100539959C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.100539959C>T , CM000663.2:g.100539959C>T GRCh38
NC_000001.10:g.101005515C>T , CM000663.1:g.101005515C>T GRCh37
NC_000001.9:g.100778103C>T NCBI36
NG_053134.1:g.6788C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000315033.5:c.993C>T MANE Select ENSP00000314223.4:p.Leu331=
ENST00000315033.4:c.993C>T ENSP00000314223.4:p.Leu331=
NM_022049.2:c.993C>T NP_071332.2:p.Leu331=
NM_022049.3:c.993C>T MANE Select NP_071332.2:p.Leu331=
Search 100 bp 5'
Search 100 bp 3'