Canonical Allele Identifier: CA495585932

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388839C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354927C>G , CM000678.2:g.56354927C>G	GRCh38
NC_000016.9:g.56388839C>G , CM000678.1:g.56388839C>G	GRCh37
NC_000016.8:g.54946340C>G	NCBI36
NG_042800.1:g.168589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.939C>G MANE Select	ENSP00000262493.6:p.Arg313=
ENST00000562316.6:c.545-1176C>G	ENSP00000457238.2:n.545-1176C>G
ENST00000564727.2:c.243C>G	ENSP00000454971.2:p.Arg81=
ENST00000568375.2:c.177C>G
ENST00000638185.1:n.1154C>G
ENST00000638210.1:n.1239C>G
ENST00000638705.1:c.939C>G	ENSP00000491223.1:p.Arg313=
ENST00000638836.1:n.849C>G
ENST00000639055.1:n.1660C>G
ENST00000639251.1:n.840C>G
ENST00000639268.1:c.574C>G
ENST00000639341.1:c.464C>G
ENST00000639770.1:c.977C>G	ENSP00000491999.1:n.977C>G
ENST00000640390.1:n.869C>G
ENST00000640469.1:c.303C>G	ENSP00000491875.1:p.Arg101=
ENST00000640560.1:n.715C>G
ENST00000640893.1:c.*337C>G	ENSP00000492677.1:n.*337C>G
ENST00000262493.10:c.939C>G	ENSP00000262493.6:p.Arg313=
ENST00000564727.1:c.159C>G	ENSP00000454971.1:p.Arg53=
ENST00000568375.1:n.177C>G
NM_020988.2:c.939C>G	NP_066268.1:p.Arg313=
XM_011523003.1:c.813C>G	XP_011521305.1:p.Arg271=
XM_011523003.3:c.813C>G	XP_011521305.1:p.Arg271=
NM_020988.3:c.939C>G MANE Select	NP_066268.1:p.Arg313=