Canonical Allele Identifier: CA395952385

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370753T>G (hg19) ; chr16:g.56336841T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336841T>G , CM000678.2:g.56336841T>G	GRCh38
NC_000016.9:g.56370753T>G , CM000678.1:g.56370753T>G	GRCh37
NC_000016.8:g.54928254T>G	NCBI36
NG_042800.1:g.150503T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.704T>G	ENSP00000262494.7:p.Leu235Arg
ENST00000262493.12:c.704T>G MANE Select	ENSP00000262493.6:p.Leu235Arg
ENST00000262494.12:c.704T>G	ENSP00000262494.7:p.Leu235Arg
ENST00000562316.6:c.371T>G	ENSP00000457238.2:p.Leu124Arg
ENST00000564727.2:c.8T>G	ENSP00000454971.2:p.Leu3Arg
ENST00000568375.2:c.96T>G
ENST00000638185.1:n.919T>G
ENST00000638210.1:n.1004T>G
ENST00000638705.1:c.704T>G	ENSP00000491223.1:p.Leu235Arg
ENST00000638836.1:n.614T>G
ENST00000639055.1:n.1425T>G
ENST00000639251.1:n.605T>G
ENST00000639268.1:c.339T>G
ENST00000639341.1:c.229T>G
ENST00000639770.1:c.742T>G	ENSP00000491999.1:n.742T>G
ENST00000640390.1:n.634T>G
ENST00000640469.1:c.68T>G	ENSP00000491875.1:p.Leu23Arg
ENST00000640560.1:n.480T>G
ENST00000640893.1:c.*102T>G	ENSP00000492677.1:n.*102T>G
ENST00000262493.10:c.704T>G	ENSP00000262493.6:p.Leu235Arg
ENST00000262494.11:c.704T>G	ENSP00000262494.7:p.Leu235Arg
ENST00000568375.1:n.96T>G
NM_020988.2:c.704T>G	NP_066268.1:p.Leu235Arg
NM_138736.2:c.704T>G	NP_620073.2:p.Leu235Arg
XM_011523003.1:c.578T>G	XP_011521305.1:p.Leu193Arg
XM_011523003.3:c.578T>G	XP_011521305.1:p.Leu193Arg
NM_020988.3:c.704T>G MANE Select	NP_066268.1:p.Leu235Arg
NM_138736.3:c.704T>G	NP_620073.2:p.Leu235Arg