Canonical Allele Identifier: CA495573685

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2034611
• ClinVar RCV Id: RCV002868018
• dbSNP Id: rs1384092692
• gnomAD v2: 16-56370769-C-T
• MyVariant Identifiers: chr16:g.56370769C>T (hg19) ; chr16:g.56336857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336857C>T , CM000678.2:g.56336857C>T	GRCh38
NC_000016.9:g.56370769C>T , CM000678.1:g.56370769C>T	GRCh37
NC_000016.8:g.54928270C>T	NCBI36
NG_042800.1:g.150519C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.720C>T	ENSP00000262494.7:p.Thr240=
ENST00000262493.12:c.720C>T MANE Select	ENSP00000262493.6:p.Thr240=
ENST00000262494.12:c.720C>T	ENSP00000262494.7:p.Thr240=
ENST00000562316.6:c.387C>T	ENSP00000457238.2:p.Thr129=
ENST00000564727.2:c.24C>T	ENSP00000454971.2:p.Thr8=
ENST00000568375.2:c.112C>T
ENST00000638185.1:n.935C>T
ENST00000638210.1:n.1020C>T
ENST00000638705.1:c.720C>T	ENSP00000491223.1:p.Thr240=
ENST00000638836.1:n.630C>T
ENST00000639055.1:n.1441C>T
ENST00000639251.1:n.621C>T
ENST00000639268.1:c.355C>T
ENST00000639341.1:c.245C>T
ENST00000639770.1:c.758C>T	ENSP00000491999.1:n.758C>T
ENST00000640390.1:n.650C>T
ENST00000640469.1:c.84C>T	ENSP00000491875.1:p.Thr28=
ENST00000640560.1:n.496C>T
ENST00000640893.1:c.*118C>T	ENSP00000492677.1:n.*118C>T
ENST00000262493.10:c.720C>T	ENSP00000262493.6:p.Thr240=
ENST00000262494.11:c.720C>T	ENSP00000262494.7:p.Thr240=
ENST00000568375.1:n.112C>T
NM_020988.2:c.720C>T	NP_066268.1:p.Thr240=
NM_138736.2:c.720C>T	NP_620073.2:p.Thr240=
XM_011523003.1:c.594C>T	XP_011521305.1:p.Thr198=
XM_011523003.3:c.594C>T	XP_011521305.1:p.Thr198=
NM_020988.3:c.720C>T MANE Select	NP_066268.1:p.Thr240=
NM_138736.3:c.720C>T	NP_620073.2:p.Thr240=