Canonical Allele Identifier: CA395955226

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388894A>G (hg19) ; chr16:g.56354982A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354982A>G , CM000678.2:g.56354982A>G	GRCh38
NC_000016.9:g.56388894A>G , CM000678.1:g.56388894A>G	GRCh37
NC_000016.8:g.54946395A>G	NCBI36
NG_042800.1:g.168644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.994A>G MANE Select	ENSP00000262493.6:p.Ile332Val
ENST00000562316.6:c.545-1121A>G	ENSP00000457238.2:n.545-1121A>G
ENST00000564727.2:c.298A>G	ENSP00000454971.2:p.Ile100Val
ENST00000568375.2:c.232A>G
ENST00000638210.1:n.1294A>G
ENST00000638705.1:c.994A>G	ENSP00000491223.1:p.Ile332Val
ENST00000638836.1:n.904A>G
ENST00000639251.1:n.895A>G
ENST00000639268.1:c.629A>G
ENST00000639341.1:c.519A>G
ENST00000639770.1:c.1032A>G	ENSP00000491999.1:n.1032A>G
ENST00000640390.1:n.924A>G
ENST00000640469.1:c.358A>G	ENSP00000491875.1:p.Ile120Val
ENST00000640560.1:n.770A>G
ENST00000640893.1:c.*392A>G	ENSP00000492677.1:n.*392A>G
ENST00000262493.10:c.994A>G	ENSP00000262493.6:p.Ile332Val
ENST00000564727.1:c.214A>G	ENSP00000454971.1:p.Ile72Val
ENST00000568375.1:n.232A>G
NM_020988.2:c.994A>G	NP_066268.1:p.Ile332Val
XM_011523003.1:c.868A>G	XP_011521305.1:p.Ile290Val
XM_011523003.3:c.868A>G	XP_011521305.1:p.Ile290Val
NM_020988.3:c.994A>G MANE Select	NP_066268.1:p.Ile332Val