Canonical Allele Identifier: CA495578776

Gene: GNAO1

Linked Data

• COSMIC: COSM1629931
• MyVariant Identifiers: chr16:g.56385373C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351461C>G , CM000678.2:g.56351461C>G	GRCh38
NC_000016.9:g.56385373C>G , CM000678.1:g.56385373C>G	GRCh37
NC_000016.8:g.54942874C>G	NCBI36
NG_042800.1:g.165123C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.801C>G MANE Select	ENSP00000262493.6:p.Leu267=
ENST00000562316.6:c.468C>G	ENSP00000457238.2:p.Leu156=
ENST00000564727.2:c.105C>G	ENSP00000454971.2:p.Leu35=
ENST00000568375.2:c.116-3405C>G
ENST00000638185.1:n.1016C>G
ENST00000638210.1:n.1101C>G
ENST00000638705.1:c.801C>G	ENSP00000491223.1:p.Leu267=
ENST00000638836.1:n.711C>G
ENST00000639055.1:n.1522C>G
ENST00000639251.1:n.702C>G
ENST00000639268.1:c.436C>G
ENST00000639341.1:c.326C>G
ENST00000639770.1:c.839C>G	ENSP00000491999.1:n.839C>G
ENST00000640390.1:n.731C>G
ENST00000640469.1:c.165C>G	ENSP00000491875.1:p.Leu55=
ENST00000640560.1:n.577C>G
ENST00000640893.1:c.*199C>G	ENSP00000492677.1:n.*199C>G
ENST00000262493.10:c.801C>G	ENSP00000262493.6:p.Leu267=
ENST00000564727.1:c.21C>G	ENSP00000454971.1:p.Leu7=
ENST00000568375.1:n.116-3405C>G
NM_020988.2:c.801C>G	NP_066268.1:p.Leu267=
XM_011523003.1:c.675C>G	XP_011521305.1:p.Leu225=
XM_011523003.3:c.675C>G	XP_011521305.1:p.Leu225=
NM_020988.3:c.801C>G MANE Select	NP_066268.1:p.Leu267=