Canonical Allele Identifier: CA395954927

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385444A>G (hg19) ; chr16:g.56351532A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351532A>G , CM000678.2:g.56351532A>G	GRCh38
NC_000016.9:g.56385444A>G , CM000678.1:g.56385444A>G	GRCh37
NC_000016.8:g.54942945A>G	NCBI36
NG_042800.1:g.165194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.872A>G MANE Select	ENSP00000262493.6:p.Tyr291Cys
ENST00000562316.6:c.539A>G	ENSP00000457238.2:p.Tyr180Cys
ENST00000564727.2:c.176A>G	ENSP00000454971.2:p.Tyr59Cys
ENST00000568375.2:c.116-3334A>G
ENST00000638185.1:n.1087A>G
ENST00000638210.1:n.1172A>G
ENST00000638705.1:c.872A>G	ENSP00000491223.1:p.Tyr291Cys
ENST00000638836.1:n.782A>G
ENST00000639055.1:n.1593A>G
ENST00000639251.1:n.773A>G
ENST00000639268.1:c.507A>G
ENST00000639341.1:c.397A>G
ENST00000639770.1:c.910A>G	ENSP00000491999.1:n.910A>G
ENST00000640390.1:n.802A>G
ENST00000640469.1:c.236A>G	ENSP00000491875.1:p.Tyr79Cys
ENST00000640560.1:n.648A>G
ENST00000640893.1:c.*270A>G	ENSP00000492677.1:n.*270A>G
ENST00000262493.10:c.872A>G	ENSP00000262493.6:p.Tyr291Cys
ENST00000564727.1:c.92A>G	ENSP00000454971.1:p.Tyr31Cys
ENST00000568375.1:n.116-3334A>G
NM_020988.2:c.872A>G	NP_066268.1:p.Tyr291Cys
XM_011523003.1:c.746A>G	XP_011521305.1:p.Tyr249Cys
XM_011523003.3:c.746A>G	XP_011521305.1:p.Tyr249Cys
NM_020988.3:c.872A>G MANE Select	NP_066268.1:p.Tyr291Cys