Canonical Allele Identifier: CA353569
Gene: GNB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224718
ClinVar RCV Id: RCV000210260 RCV000755057 RCV002470818
dbSNP Id: rs869312826
MyVariant Identifiers: chr1:g.1718817C>T (hg19) chr1:g.1787378C>T (hg38)
PubMed: PMID:27108799
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1787378C>T , CM000663.2:g.1787378C>T GRCh38
NC_000001.10:g.1718817C>T , CM000663.1:g.1718817C>T GRCh37
NC_000001.9:g.1708677C>T NCBI36
NG_047052.1:g.108740G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000439272.7:c.937G>A ENSP00000399741.3:p.Ala313Thr
ENST00000615252.5:c.676G>A ENSP00000483532.1:p.Ala226Thr
ENST00000703692.1:c.976G>A ENSP00000515427.1:p.Ala326Thr
ENST00000703693.1:c.976G>A ENSP00000515428.1:p.Ala326Thr
ENST00000703694.1:c.976G>A ENSP00000515429.1:p.Ala326Thr
ENST00000703695.1:c.*189G>A ENSP00000515430.1:n.*189G>A
ENST00000703696.1:c.976G>A ENSP00000515431.1:p.Ala326Thr
ENST00000703697.1:c.976G>A ENSP00000515432.1:p.Ala326Thr
ENST00000703698.1:n.265G>A
ENST00000703699.1:c.976G>A ENSP00000515433.1:p.Ala326Thr
ENST00000703700.1:c.976G>A ENSP00000515434.1:p.Ala326Thr
ENST00000703701.1:c.976G>A ENSP00000515435.1:p.Ala326Thr
ENST00000703702.1:c.976G>A ENSP00000515436.1:p.Ala326Thr
ENST00000703703.1:c.976G>A ENSP00000515437.1:p.Ala326Thr
ENST00000703704.1:c.976G>A ENSP00000515438.1:p.Ala326Thr
ENST00000703705.1:c.844G>A ENSP00000515439.1:p.Ala282Thr
ENST00000703706.1:c.976G>A ENSP00000515440.1:p.Ala326Thr
ENST00000703707.1:c.937G>A ENSP00000515441.1:p.Ala313Thr
ENST00000703708.1:c.976G>A ENSP00000515442.1:p.Ala326Thr
ENST00000703709.1:c.976G>A ENSP00000515443.1:p.Ala326Thr
ENST00000703710.1:c.976G>A ENSP00000515444.1:p.Ala326Thr
ENST00000703711.1:c.976G>A ENSP00000515445.1:p.Ala326Thr
ENST00000378609.9:c.976G>A MANE Select ENSP00000367872.3:p.Ala326Thr
ENST00000378609.8:c.976G>A ENSP00000367872.3:p.Ala326Thr
ENST00000610897.4:c.976G>A ENSP00000481878.1:p.Ala326Thr
ENST00000615252.4:c.676G>A ENSP00000483532.1:p.Ala226Thr
NM_001282538.1:c.676G>A NP_001269467.1:p.Ala226Thr
NM_001282539.1:c.976G>A NP_001269468.1:p.Ala326Thr
NM_002074.4:c.976G>A NP_002065.1:p.Ala326Thr
XM_017001059.2:c.976G>A XP_016856548.1:p.Ala326Thr
XM_017001060.2:c.976G>A XP_016856549.1:p.Ala326Thr
XM_017001061.2:c.976G>A XP_016856550.1:p.Ala326Thr
XM_024446495.1:c.976G>A XP_024302263.1:p.Ala326Thr
NM_002074.5:c.976G>A MANE Select NP_002065.1:p.Ala326Thr
NM_001282538.2:c.676G>A NP_001269467.1:p.Ala226Thr
NM_001282539.2:c.976G>A NP_001269468.1:p.Ala326Thr
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