Canonical Allele Identifier: CA395952304

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370718T>G (hg19) ; chr16:g.56336806T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336806T>G , CM000678.2:g.56336806T>G	GRCh38
NC_000016.9:g.56370718T>G , CM000678.1:g.56370718T>G	GRCh37
NC_000016.8:g.54928219T>G	NCBI36
NG_042800.1:g.150468T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.669T>G	ENSP00000262494.7:p.Ile223Met
ENST00000262493.12:c.669T>G MANE Select	ENSP00000262493.6:p.Ile223Met
ENST00000262494.12:c.669T>G	ENSP00000262494.7:p.Ile223Met
ENST00000562316.6:c.336T>G	ENSP00000457238.2:p.Ile112Met
ENST00000568375.2:c.61T>G
ENST00000638185.1:n.884T>G
ENST00000638210.1:n.969T>G
ENST00000638705.1:c.669T>G	ENSP00000491223.1:p.Ile223Met
ENST00000638836.1:n.579T>G
ENST00000639055.1:n.1390T>G
ENST00000639251.1:n.570T>G
ENST00000639268.1:c.304T>G
ENST00000639341.1:c.194T>G
ENST00000639770.1:c.707T>G	ENSP00000491999.1:n.707T>G
ENST00000640390.1:n.599T>G
ENST00000640469.1:c.33T>G	ENSP00000491875.1:p.Ile11Met
ENST00000640560.1:n.445T>G
ENST00000640893.1:c.*67T>G	ENSP00000492677.1:n.*67T>G
ENST00000262493.10:c.669T>G	ENSP00000262493.6:p.Ile223Met
ENST00000262494.11:c.669T>G	ENSP00000262494.7:p.Ile223Met
ENST00000568375.1:n.61T>G
NM_020988.2:c.669T>G	NP_066268.1:p.Ile223Met
NM_138736.2:c.669T>G	NP_620073.2:p.Ile223Met
XM_011523003.1:c.543T>G	XP_011521305.1:p.Ile181Met
XM_011523003.3:c.543T>G	XP_011521305.1:p.Ile181Met
NM_020988.3:c.669T>G MANE Select	NP_066268.1:p.Ile223Met
NM_138736.3:c.669T>G	NP_620073.2:p.Ile223Met