Canonical Allele Identifier: CA395955263

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388906T>A (hg19) ; chr16:g.56354994T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354994T>A , CM000678.2:g.56354994T>A	GRCh38
NC_000016.9:g.56388906T>A , CM000678.1:g.56388906T>A	GRCh37
NC_000016.8:g.54946407T>A	NCBI36
NG_042800.1:g.168656T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1006T>A MANE Select	ENSP00000262493.6:p.Phe336Ile
ENST00000562316.6:c.545-1109T>A	ENSP00000457238.2:n.545-1109T>A
ENST00000564727.2:c.303+7T>A	ENSP00000454971.2:n.303+7T>A
ENST00000568375.2:c.244T>A
ENST00000638210.1:n.1306T>A
ENST00000638705.1:c.1006T>A	ENSP00000491223.1:p.Phe336Ile
ENST00000638836.1:n.916T>A
ENST00000639251.1:n.907T>A
ENST00000639268.1:c.641T>A
ENST00000639341.1:c.531T>A
ENST00000639770.1:c.1044T>A	ENSP00000491999.1:n.1044T>A
ENST00000640390.1:n.936T>A
ENST00000640469.1:c.370T>A	ENSP00000491875.1:p.Phe124Ile
ENST00000640560.1:n.782T>A
ENST00000640893.1:c.*404T>A	ENSP00000492677.1:n.*404T>A
ENST00000262493.10:c.1006T>A	ENSP00000262493.6:p.Phe336Ile
ENST00000564727.1:c.226T>A	ENSP00000454971.1:p.Phe76Ile
ENST00000568375.1:n.244T>A
NM_020988.2:c.1006T>A	NP_066268.1:p.Phe336Ile
XM_011523003.1:c.880T>A	XP_011521305.1:p.Phe294Ile
XM_011523003.3:c.880T>A	XP_011521305.1:p.Phe294Ile
NM_020988.3:c.1006T>A MANE Select	NP_066268.1:p.Phe336Ile