Canonical Allele Identifier: CA395954929

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385445C>A (hg19) ; chr16:g.56351533C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351533C>A , CM000678.2:g.56351533C>A	GRCh38
NC_000016.9:g.56385445C>A , CM000678.1:g.56385445C>A	GRCh37
NC_000016.8:g.54942946C>A	NCBI36
NG_042800.1:g.165195C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.873C>A MANE Select	ENSP00000262493.6:p.Tyr291Ter
ENST00000562316.6:c.540C>A	ENSP00000457238.2:p.Tyr180Ter
ENST00000564727.2:c.177C>A	ENSP00000454971.2:p.Tyr59Ter
ENST00000568375.2:c.116-3333C>A
ENST00000638185.1:n.1088C>A
ENST00000638210.1:n.1173C>A
ENST00000638705.1:c.873C>A	ENSP00000491223.1:p.Tyr291Ter
ENST00000638836.1:n.783C>A
ENST00000639055.1:n.1594C>A
ENST00000639251.1:n.774C>A
ENST00000639268.1:c.508C>A
ENST00000639341.1:c.398C>A
ENST00000639770.1:c.911C>A	ENSP00000491999.1:n.911C>A
ENST00000640390.1:n.803C>A
ENST00000640469.1:c.237C>A	ENSP00000491875.1:p.Tyr79Ter
ENST00000640560.1:n.649C>A
ENST00000640893.1:c.*271C>A	ENSP00000492677.1:n.*271C>A
ENST00000262493.10:c.873C>A	ENSP00000262493.6:p.Tyr291Ter
ENST00000564727.1:c.93C>A	ENSP00000454971.1:p.Tyr31Ter
ENST00000568375.1:n.116-3333C>A
NM_020988.2:c.873C>A	NP_066268.1:p.Tyr291Ter
XM_011523003.1:c.747C>A	XP_011521305.1:p.Tyr249Ter
XM_011523003.3:c.747C>A	XP_011521305.1:p.Tyr249Ter
NM_020988.3:c.873C>A MANE Select	NP_066268.1:p.Tyr291Ter