Canonical Allele Identifier: CA2224108737

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1016767
• ClinVar RCV Id: RCV001315820
• dbSNP Id: rs2037920369

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351419dup , CM000678.2:g.56351419dup	GRCh38
NC_000016.9:g.56385331dup , CM000678.1:g.56385331dup	GRCh37
NC_000016.8:g.54942832dup	NCBI36
NG_042800.1:g.165081dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.759dup MANE Select	ENSP00000262493.6:p.Ile254HisfsTer3
ENST00000562316.6:c.426dup	ENSP00000457238.2:p.Ile143HisfsTer3
ENST00000564727.2:c.63dup	ENSP00000454971.2:p.Ile22HisfsTer3
ENST00000568375.2:c.116-3447dup
ENST00000638185.1:n.974dup
ENST00000638210.1:n.1059dup
ENST00000638705.1:c.759dup	ENSP00000491223.1:p.Ile254HisfsTer3
ENST00000638836.1:n.669dup
ENST00000639055.1:n.1480dup
ENST00000639251.1:n.660dup
ENST00000639268.1:c.394dup
ENST00000639341.1:c.284dup
ENST00000639770.1:c.797dup	ENSP00000491999.1:n.797dup
ENST00000640390.1:n.689dup
ENST00000640469.1:c.123dup	ENSP00000491875.1:p.Ile42HisfsTer3
ENST00000640560.1:n.535dup
ENST00000640893.1:c.*157dup	ENSP00000492677.1:n.*157dup
ENST00000262493.10:c.759dup	ENSP00000262493.6:p.Ile254HisfsTer3
ENST00000568375.1:n.116-3447dup
NM_020988.2:c.759dup	NP_066268.1:p.Ile254HisfsTer3
XM_011523003.1:c.633dup	XP_011521305.1:p.Ile212HisfsTer3
XM_011523003.3:c.633dup	XP_011521305.1:p.Ile212HisfsTer3
NM_020988.3:c.759dup MANE Select	NP_066268.1:p.Ile254HisfsTer3