Canonical Allele Identifier: CA395954761

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385374T>G (hg19) ; chr16:g.56351462T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351462T>G , CM000678.2:g.56351462T>G	GRCh38
NC_000016.9:g.56385374T>G , CM000678.1:g.56385374T>G	GRCh37
NC_000016.8:g.54942875T>G	NCBI36
NG_042800.1:g.165124T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.802T>G MANE Select	ENSP00000262493.6:p.Phe268Val
ENST00000562316.6:c.469T>G	ENSP00000457238.2:p.Phe157Val
ENST00000564727.2:c.106T>G	ENSP00000454971.2:p.Phe36Val
ENST00000568375.2:c.116-3404T>G
ENST00000638185.1:n.1017T>G
ENST00000638210.1:n.1102T>G
ENST00000638705.1:c.802T>G	ENSP00000491223.1:p.Phe268Val
ENST00000638836.1:n.712T>G
ENST00000639055.1:n.1523T>G
ENST00000639251.1:n.703T>G
ENST00000639268.1:c.437T>G
ENST00000639341.1:c.327T>G
ENST00000639770.1:c.840T>G	ENSP00000491999.1:n.840T>G
ENST00000640390.1:n.732T>G
ENST00000640469.1:c.166T>G	ENSP00000491875.1:p.Phe56Val
ENST00000640560.1:n.578T>G
ENST00000640893.1:c.*200T>G	ENSP00000492677.1:n.*200T>G
ENST00000262493.10:c.802T>G	ENSP00000262493.6:p.Phe268Val
ENST00000564727.1:c.22T>G	ENSP00000454971.1:p.Phe8Val
ENST00000568375.1:n.116-3404T>G
NM_020988.2:c.802T>G	NP_066268.1:p.Phe268Val
XM_011523003.1:c.676T>G	XP_011521305.1:p.Phe226Val
XM_011523003.3:c.676T>G	XP_011521305.1:p.Phe226Val
NM_020988.3:c.802T>G MANE Select	NP_066268.1:p.Phe268Val