Canonical Allele Identifier: CA495573638

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2813864
• ClinVar RCV Id: RCV003754179
• dbSNP Id: rs770769352
• gnomAD v2: 16-56370730-G-T
• gnomAD v4: 16-56336818-G-T
• MyVariant Identifiers: chr16:g.56370730G>T (hg19) ; chr16:g.56336818G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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