Canonical Allele Identifier: CA395955347

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388927A>G (hg19) ; chr16:g.56355015A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355015A>G , CM000678.2:g.56355015A>G	GRCh38
NC_000016.9:g.56388927A>G , CM000678.1:g.56388927A>G	GRCh37
NC_000016.8:g.54946428A>G	NCBI36
NG_042800.1:g.168677A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1027A>G MANE Select	ENSP00000262493.6:p.Ile343Val
ENST00000562316.6:c.545-1088A>G	ENSP00000457238.2:n.545-1088A>G
ENST00000564727.2:c.303+28A>G	ENSP00000454971.2:n.303+28A>G
ENST00000568375.2:c.265A>G
ENST00000638210.1:n.1327A>G
ENST00000638705.1:c.1027A>G	ENSP00000491223.1:p.Ile343Val
ENST00000638836.1:n.937A>G
ENST00000639251.1:n.928A>G
ENST00000639268.1:c.662A>G
ENST00000639341.1:c.552A>G
ENST00000639770.1:c.1065A>G	ENSP00000491999.1:n.1065A>G
ENST00000640390.1:n.957A>G
ENST00000640469.1:c.391A>G	ENSP00000491875.1:p.Ile131Val
ENST00000640560.1:n.803A>G
ENST00000640893.1:c.*425A>G	ENSP00000492677.1:n.*425A>G
ENST00000262493.10:c.1027A>G	ENSP00000262493.6:p.Ile343Val
ENST00000564727.1:c.247A>G	ENSP00000454971.1:p.Ile83Val
ENST00000568375.1:n.265A>G
NM_020988.2:c.1027A>G	NP_066268.1:p.Ile343Val
XM_011523003.1:c.901A>G	XP_011521305.1:p.Ile301Val
XM_011523003.3:c.901A>G	XP_011521305.1:p.Ile301Val
NM_020988.3:c.1027A>G MANE Select	NP_066268.1:p.Ile343Val