Canonical Allele Identifier: CA8063995

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 791761
• ClinVar RCV Id: RCV001481832
• dbSNP Id: rs752997228
• ExAC: 16:56385355 C / T
• gnomAD v2: 16-56385355-C-T
• gnomAD v3: 16-56351443-C-T
• gnomAD v4: 16-56351443-C-T
• MyVariant Identifiers: chr16:g.56385355C>T (hg19) ; chr16:g.56351443C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351443C>T , CM000678.2:g.56351443C>T	GRCh38
NC_000016.9:g.56385355C>T , CM000678.1:g.56385355C>T	GRCh37
NC_000016.8:g.54942856C>T	NCBI36
NG_042800.1:g.165105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.783C>T MANE Select	ENSP00000262493.6:p.Ile261=
ENST00000562316.6:c.450C>T	ENSP00000457238.2:p.Ile150=
ENST00000564727.2:c.87C>T	ENSP00000454971.2:p.Ile29=
ENST00000568375.2:c.116-3423C>T
ENST00000638185.1:n.998C>T
ENST00000638210.1:n.1083C>T
ENST00000638705.1:c.783C>T	ENSP00000491223.1:p.Ile261=
ENST00000638836.1:n.693C>T
ENST00000639055.1:n.1504C>T
ENST00000639251.1:n.684C>T
ENST00000639268.1:c.418C>T
ENST00000639341.1:c.308C>T
ENST00000639770.1:c.821C>T	ENSP00000491999.1:n.821C>T
ENST00000640390.1:n.713C>T
ENST00000640469.1:c.147C>T	ENSP00000491875.1:p.Ile49=
ENST00000640560.1:n.559C>T
ENST00000640893.1:c.*181C>T	ENSP00000492677.1:n.*181C>T
ENST00000262493.10:c.783C>T	ENSP00000262493.6:p.Ile261=
ENST00000564727.1:c.3C>T	ENSP00000454971.1:p.Ile1=
ENST00000568375.1:n.116-3423C>T
NM_020988.2:c.783C>T	NP_066268.1:p.Ile261=
XM_011523003.1:c.657C>T	XP_011521305.1:p.Ile219=
XM_011523003.3:c.657C>T	XP_011521305.1:p.Ile219=
NM_020988.3:c.783C>T MANE Select	NP_066268.1:p.Ile261=