Canonical Allele Identifier: CA395955152

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388863T>G (hg19) ; chr16:g.56354951T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354951T>G , CM000678.2:g.56354951T>G	GRCh38
NC_000016.9:g.56388863T>G , CM000678.1:g.56388863T>G	GRCh37
NC_000016.8:g.54946364T>G	NCBI36
NG_042800.1:g.168613T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.963T>G MANE Select	ENSP00000262493.6:p.Cys321Trp
ENST00000562316.6:c.545-1152T>G	ENSP00000457238.2:n.545-1152T>G
ENST00000564727.2:c.267T>G	ENSP00000454971.2:p.Cys89Trp
ENST00000568375.2:c.201T>G
ENST00000638210.1:n.1263T>G
ENST00000638705.1:c.963T>G	ENSP00000491223.1:p.Cys321Trp
ENST00000638836.1:n.873T>G
ENST00000639251.1:n.864T>G
ENST00000639268.1:c.598T>G
ENST00000639341.1:c.488T>G
ENST00000639770.1:c.1001T>G	ENSP00000491999.1:n.1001T>G
ENST00000640390.1:n.893T>G
ENST00000640469.1:c.327T>G	ENSP00000491875.1:p.Cys109Trp
ENST00000640560.1:n.739T>G
ENST00000640893.1:c.*361T>G	ENSP00000492677.1:n.*361T>G
ENST00000262493.10:c.963T>G	ENSP00000262493.6:p.Cys321Trp
ENST00000564727.1:c.183T>G	ENSP00000454971.1:p.Cys61Trp
ENST00000568375.1:n.201T>G
NM_020988.2:c.963T>G	NP_066268.1:p.Cys321Trp
XM_011523003.1:c.837T>G	XP_011521305.1:p.Cys279Trp
XM_011523003.3:c.837T>G	XP_011521305.1:p.Cys279Trp
NM_020988.3:c.963T>G MANE Select	NP_066268.1:p.Cys321Trp