Canonical Allele Identifier: CA495573637

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370730G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336818G>C , CM000678.2:g.56336818G>C	GRCh38
NC_000016.9:g.56370730G>C , CM000678.1:g.56370730G>C	GRCh37
NC_000016.8:g.54928231G>C	NCBI36
NG_042800.1:g.150480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.681G>C	ENSP00000262494.7:p.Ala227=
ENST00000262493.12:c.681G>C MANE Select	ENSP00000262493.6:p.Ala227=
ENST00000262494.12:c.681G>C	ENSP00000262494.7:p.Ala227=
ENST00000562316.6:c.348G>C	ENSP00000457238.2:p.Ala116=
ENST00000568375.2:c.73G>C
ENST00000638185.1:n.896G>C
ENST00000638210.1:n.981G>C
ENST00000638705.1:c.681G>C	ENSP00000491223.1:p.Ala227=
ENST00000638836.1:n.591G>C
ENST00000639055.1:n.1402G>C
ENST00000639251.1:n.582G>C
ENST00000639268.1:c.316G>C
ENST00000639341.1:c.206G>C
ENST00000639770.1:c.719G>C	ENSP00000491999.1:n.719G>C
ENST00000640390.1:n.611G>C
ENST00000640469.1:c.45G>C	ENSP00000491875.1:p.Ala15=
ENST00000640560.1:n.457G>C
ENST00000640893.1:c.*79G>C	ENSP00000492677.1:n.*79G>C
ENST00000262493.10:c.681G>C	ENSP00000262493.6:p.Ala227=
ENST00000262494.11:c.681G>C	ENSP00000262494.7:p.Ala227=
ENST00000568375.1:n.73G>C
NM_020988.2:c.681G>C	NP_066268.1:p.Ala227=
NM_138736.2:c.681G>C	NP_620073.2:p.Ala227=
XM_011523003.1:c.555G>C	XP_011521305.1:p.Ala185=
XM_011523003.3:c.555G>C	XP_011521305.1:p.Ala185=
NM_020988.3:c.681G>C MANE Select	NP_066268.1:p.Ala227=
NM_138736.3:c.681G>C	NP_620073.2:p.Ala227=