Canonical Allele Identifier: CA395954614

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385312C>G (hg19) ; chr16:g.56351400C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351400C>G , CM000678.2:g.56351400C>G	GRCh38
NC_000016.9:g.56385312C>G , CM000678.1:g.56385312C>G	GRCh37
NC_000016.8:g.54942813C>G	NCBI36
NG_042800.1:g.165062C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.740C>G MANE Select	ENSP00000262493.6:p.Ser247Cys
ENST00000562316.6:c.407C>G	ENSP00000457238.2:p.Ser136Cys
ENST00000564727.2:c.44C>G	ENSP00000454971.2:p.Ser15Cys
ENST00000568375.2:c.116-3466C>G
ENST00000638185.1:n.955C>G
ENST00000638210.1:n.1040C>G
ENST00000638705.1:c.740C>G	ENSP00000491223.1:p.Ser247Cys
ENST00000638836.1:n.650C>G
ENST00000639055.1:n.1461C>G
ENST00000639251.1:n.641C>G
ENST00000639268.1:c.375C>G
ENST00000639341.1:c.265C>G
ENST00000639770.1:c.778C>G	ENSP00000491999.1:n.778C>G
ENST00000640390.1:n.670C>G
ENST00000640469.1:c.104C>G	ENSP00000491875.1:p.Ser35Cys
ENST00000640560.1:n.516C>G
ENST00000640893.1:c.*138C>G	ENSP00000492677.1:n.*138C>G
ENST00000262493.10:c.740C>G	ENSP00000262493.6:p.Ser247Cys
ENST00000568375.1:n.116-3466C>G
NM_020988.2:c.740C>G	NP_066268.1:p.Ser247Cys
XM_011523003.1:c.614C>G	XP_011521305.1:p.Ser205Cys
XM_011523003.3:c.614C>G	XP_011521305.1:p.Ser205Cys
NM_020988.3:c.740C>G MANE Select	NP_066268.1:p.Ser247Cys