Canonical Allele Identifier: CA395955442

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 3235074
• ClinVar RCV Id: RCV004547411
• COSMIC: COSM6037855
• MyVariant Identifiers: chr16:g.56388954G>A (hg19) ; chr16:g.56355042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355042G>A , CM000678.2:g.56355042G>A	GRCh38
NC_000016.9:g.56388954G>A , CM000678.1:g.56388954G>A	GRCh37
NC_000016.8:g.54946455G>A	NCBI36
NG_042800.1:g.168704G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1054G>A MANE Select	ENSP00000262493.6:p.Gly352Ser
ENST00000562316.6:c.545-1061G>A	ENSP00000457238.2:n.545-1061G>A
ENST00000564727.2:c.303+55G>A	ENSP00000454971.2:n.303+55G>A
ENST00000568375.2:c.292G>A
ENST00000638210.1:n.1354G>A
ENST00000638705.1:c.1054G>A	ENSP00000491223.1:p.Gly352Ser
ENST00000638836.1:n.964G>A
ENST00000639251.1:n.955G>A
ENST00000639268.1:c.689G>A
ENST00000639341.1:c.579G>A
ENST00000639770.1:c.1092G>A	ENSP00000491999.1:n.1092G>A
ENST00000640390.1:n.984G>A
ENST00000640469.1:c.418G>A	ENSP00000491875.1:p.Gly140Ser
ENST00000640560.1:n.830G>A
ENST00000640893.1:c.*452G>A	ENSP00000492677.1:n.*452G>A
ENST00000262493.10:c.1054G>A	ENSP00000262493.6:p.Gly352Ser
ENST00000564727.1:c.274G>A	ENSP00000454971.1:p.Gly92Ser
ENST00000568375.1:n.292G>A
NM_020988.2:c.1054G>A	NP_066268.1:p.Gly352Ser
XM_011523003.1:c.928G>A	XP_011521305.1:p.Gly310Ser
XM_011523003.3:c.928G>A	XP_011521305.1:p.Gly310Ser
NM_020988.3:c.1054G>A MANE Select	NP_066268.1:p.Gly352Ser