Canonical Allele Identifier: CA395952344

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1018745
• ClinVar RCV Id: RCV001318085
• dbSNP Id: rs546569747
• MyVariant Identifiers: chr16:g.56370736C>A (hg19) ; chr16:g.56336824C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336824C>A , CM000678.2:g.56336824C>A	GRCh38
NC_000016.9:g.56370736C>A , CM000678.1:g.56370736C>A	GRCh37
NC_000016.8:g.54928237C>A	NCBI36
NG_042800.1:g.150486C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.687C>A	ENSP00000262494.7:p.Ser229Arg
ENST00000262493.12:c.687C>A MANE Select	ENSP00000262493.6:p.Ser229Arg
ENST00000262494.12:c.687C>A	ENSP00000262494.7:p.Ser229Arg
ENST00000562316.6:c.354C>A	ENSP00000457238.2:p.Ser118Arg
ENST00000568375.2:c.79C>A
ENST00000638185.1:n.902C>A
ENST00000638210.1:n.987C>A
ENST00000638705.1:c.687C>A	ENSP00000491223.1:p.Ser229Arg
ENST00000638836.1:n.597C>A
ENST00000639055.1:n.1408C>A
ENST00000639251.1:n.588C>A
ENST00000639268.1:c.322C>A
ENST00000639341.1:c.212C>A
ENST00000639770.1:c.725C>A	ENSP00000491999.1:n.725C>A
ENST00000640390.1:n.617C>A
ENST00000640469.1:c.51C>A	ENSP00000491875.1:p.Ser17Arg
ENST00000640560.1:n.463C>A
ENST00000640893.1:c.*85C>A	ENSP00000492677.1:n.*85C>A
ENST00000262493.10:c.687C>A	ENSP00000262493.6:p.Ser229Arg
ENST00000262494.11:c.687C>A	ENSP00000262494.7:p.Ser229Arg
ENST00000568375.1:n.79C>A
NM_020988.2:c.687C>A	NP_066268.1:p.Ser229Arg
NM_138736.2:c.687C>A	NP_620073.2:p.Ser229Arg
XM_011523003.1:c.561C>A	XP_011521305.1:p.Ser187Arg
XM_011523003.3:c.561C>A	XP_011521305.1:p.Ser187Arg
NM_020988.3:c.687C>A MANE Select	NP_066268.1:p.Ser229Arg
NM_138736.3:c.687C>A	NP_620073.2:p.Ser229Arg