Canonical Allele Identifier: CA395952421

Gene: GNAO1

Linked Data

• dbSNP Id: rs2037744867
• MyVariant Identifiers: chr16:g.56370768C>G (hg19) ; chr16:g.56336856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336856C>G , CM000678.2:g.56336856C>G	GRCh38
NC_000016.9:g.56370768C>G , CM000678.1:g.56370768C>G	GRCh37
NC_000016.8:g.54928269C>G	NCBI36
NG_042800.1:g.150518C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.719C>G	ENSP00000262494.7:p.Thr240Ser
ENST00000262493.12:c.719C>G MANE Select	ENSP00000262493.6:p.Thr240Ser
ENST00000262494.12:c.719C>G	ENSP00000262494.7:p.Thr240Ser
ENST00000562316.6:c.386C>G	ENSP00000457238.2:p.Thr129Ser
ENST00000564727.2:c.23C>G	ENSP00000454971.2:p.Thr8Ser
ENST00000568375.2:c.111C>G
ENST00000638185.1:n.934C>G
ENST00000638210.1:n.1019C>G
ENST00000638705.1:c.719C>G	ENSP00000491223.1:p.Thr240Ser
ENST00000638836.1:n.629C>G
ENST00000639055.1:n.1440C>G
ENST00000639251.1:n.620C>G
ENST00000639268.1:c.354C>G
ENST00000639341.1:c.244C>G
ENST00000639770.1:c.757C>G	ENSP00000491999.1:n.757C>G
ENST00000640390.1:n.649C>G
ENST00000640469.1:c.83C>G	ENSP00000491875.1:p.Thr28Ser
ENST00000640560.1:n.495C>G
ENST00000640893.1:c.*117C>G	ENSP00000492677.1:n.*117C>G
ENST00000262493.10:c.719C>G	ENSP00000262493.6:p.Thr240Ser
ENST00000262494.11:c.719C>G	ENSP00000262494.7:p.Thr240Ser
ENST00000568375.1:n.111C>G
NM_020988.2:c.719C>G	NP_066268.1:p.Thr240Ser
NM_138736.2:c.719C>G	NP_620073.2:p.Thr240Ser
XM_011523003.1:c.593C>G	XP_011521305.1:p.Thr198Ser
XM_011523003.3:c.593C>G	XP_011521305.1:p.Thr198Ser
NM_020988.3:c.719C>G MANE Select	NP_066268.1:p.Thr240Ser
NM_138736.3:c.719C>G	NP_620073.2:p.Thr240Ser