Canonical Allele Identifier: CA495573620

Gene: GNAO1

Linked Data

• dbSNP Id: rs2143665049
• MyVariant Identifiers: chr16:g.56370715C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336803C>A , CM000678.2:g.56336803C>A	GRCh38
NC_000016.9:g.56370715C>A , CM000678.1:g.56370715C>A	GRCh37
NC_000016.8:g.54928216C>A	NCBI36
NG_042800.1:g.150465C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.666C>A	ENSP00000262494.7:p.Ile222=
ENST00000262493.12:c.666C>A MANE Select	ENSP00000262493.6:p.Ile222=
ENST00000262494.12:c.666C>A	ENSP00000262494.7:p.Ile222=
ENST00000562316.6:c.333C>A	ENSP00000457238.2:p.Ile111=
ENST00000568375.2:c.58C>A
ENST00000638185.1:n.881C>A
ENST00000638210.1:n.966C>A
ENST00000638705.1:c.666C>A	ENSP00000491223.1:p.Ile222=
ENST00000638836.1:n.576C>A
ENST00000639055.1:n.1387C>A
ENST00000639251.1:n.567C>A
ENST00000639268.1:c.301C>A
ENST00000639341.1:c.191C>A
ENST00000639770.1:c.704C>A	ENSP00000491999.1:n.704C>A
ENST00000640390.1:n.596C>A
ENST00000640469.1:c.30C>A	ENSP00000491875.1:p.Ile10=
ENST00000640560.1:n.442C>A
ENST00000640893.1:c.*64C>A	ENSP00000492677.1:n.*64C>A
ENST00000262493.10:c.666C>A	ENSP00000262493.6:p.Ile222=
ENST00000262494.11:c.666C>A	ENSP00000262494.7:p.Ile222=
ENST00000568375.1:n.58C>A
NM_020988.2:c.666C>A	NP_066268.1:p.Ile222=
NM_138736.2:c.666C>A	NP_620073.2:p.Ile222=
XM_011523003.1:c.540C>A	XP_011521305.1:p.Ile180=
XM_011523003.3:c.540C>A	XP_011521305.1:p.Ile180=
NM_020988.3:c.666C>A MANE Select	NP_066268.1:p.Ile222=
NM_138736.3:c.666C>A	NP_620073.2:p.Ile222=