Canonical Allele Identifier: CA395955270

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388907T>G (hg19) ; chr16:g.56354995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354995T>G , CM000678.2:g.56354995T>G	GRCh38
NC_000016.9:g.56388907T>G , CM000678.1:g.56388907T>G	GRCh37
NC_000016.8:g.54946408T>G	NCBI36
NG_042800.1:g.168657T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1007T>G MANE Select	ENSP00000262493.6:p.Phe336Cys
ENST00000562316.6:c.545-1108T>G	ENSP00000457238.2:n.545-1108T>G
ENST00000564727.2:c.303+8T>G	ENSP00000454971.2:n.303+8T>G
ENST00000568375.2:c.245T>G
ENST00000638210.1:n.1307T>G
ENST00000638705.1:c.1007T>G	ENSP00000491223.1:p.Phe336Cys
ENST00000638836.1:n.917T>G
ENST00000639251.1:n.908T>G
ENST00000639268.1:c.642T>G
ENST00000639341.1:c.532T>G
ENST00000639770.1:c.1045T>G	ENSP00000491999.1:n.1045T>G
ENST00000640390.1:n.937T>G
ENST00000640469.1:c.371T>G	ENSP00000491875.1:p.Phe124Cys
ENST00000640560.1:n.783T>G
ENST00000640893.1:c.*405T>G	ENSP00000492677.1:n.*405T>G
ENST00000262493.10:c.1007T>G	ENSP00000262493.6:p.Phe336Cys
ENST00000564727.1:c.227T>G	ENSP00000454971.1:p.Phe76Cys
ENST00000568375.1:n.245T>G
NM_020988.2:c.1007T>G	NP_066268.1:p.Phe336Cys
XM_011523003.1:c.881T>G	XP_011521305.1:p.Phe294Cys
XM_011523003.3:c.881T>G	XP_011521305.1:p.Phe294Cys
NM_020988.3:c.1007T>G MANE Select	NP_066268.1:p.Phe336Cys