Canonical Allele Identifier: CA8063993

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1567049
• ClinVar RCV Id: RCV002214644
• dbSNP Id: rs755484788
• ExAC: 16:56385325 C / T
• gnomAD v2: 16-56385325-C-T
• gnomAD v3: 16-56351413-C-T
• gnomAD v4: 16-56351413-C-T
• COSMIC: COSM971650
• MyVariant Identifiers: chr16:g.56385325C>T (hg19) ; chr16:g.56351413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351413C>T , CM000678.2:g.56351413C>T	GRCh38
NC_000016.9:g.56385325C>T , CM000678.1:g.56385325C>T	GRCh37
NC_000016.8:g.54942826C>T	NCBI36
NG_042800.1:g.165075C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.753C>T MANE Select	ENSP00000262493.6:p.Phe251=
ENST00000562316.6:c.420C>T	ENSP00000457238.2:p.Phe140=
ENST00000564727.2:c.57C>T	ENSP00000454971.2:p.Phe19=
ENST00000568375.2:c.116-3453C>T
ENST00000638185.1:n.968C>T
ENST00000638210.1:n.1053C>T
ENST00000638705.1:c.753C>T	ENSP00000491223.1:p.Phe251=
ENST00000638836.1:n.663C>T
ENST00000639055.1:n.1474C>T
ENST00000639251.1:n.654C>T
ENST00000639268.1:c.388C>T
ENST00000639341.1:c.278C>T
ENST00000639770.1:c.791C>T	ENSP00000491999.1:n.791C>T
ENST00000640390.1:n.683C>T
ENST00000640469.1:c.117C>T	ENSP00000491875.1:p.Phe39=
ENST00000640560.1:n.529C>T
ENST00000640893.1:c.*151C>T	ENSP00000492677.1:n.*151C>T
ENST00000262493.10:c.753C>T	ENSP00000262493.6:p.Phe251=
ENST00000568375.1:n.116-3453C>T
NM_020988.2:c.753C>T	NP_066268.1:p.Phe251=
XM_011523003.1:c.627C>T	XP_011521305.1:p.Phe209=
XM_011523003.3:c.627C>T	XP_011521305.1:p.Phe209=
NM_020988.3:c.753C>T MANE Select	NP_066268.1:p.Phe251=