Canonical Allele Identifier: CA395954906

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385435T>A (hg19) ; chr16:g.56351523T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351523T>A , CM000678.2:g.56351523T>A	GRCh38
NC_000016.9:g.56385435T>A , CM000678.1:g.56385435T>A	GRCh37
NC_000016.8:g.54942936T>A	NCBI36
NG_042800.1:g.165185T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.863T>A MANE Select	ENSP00000262493.6:p.Phe288Tyr
ENST00000562316.6:c.530T>A	ENSP00000457238.2:p.Phe177Tyr
ENST00000564727.2:c.167T>A	ENSP00000454971.2:p.Phe56Tyr
ENST00000568375.2:c.116-3343T>A
ENST00000638185.1:n.1078T>A
ENST00000638210.1:n.1163T>A
ENST00000638705.1:c.863T>A	ENSP00000491223.1:p.Phe288Tyr
ENST00000638836.1:n.773T>A
ENST00000639055.1:n.1584T>A
ENST00000639251.1:n.764T>A
ENST00000639268.1:c.498T>A
ENST00000639341.1:c.388T>A
ENST00000639770.1:c.901T>A	ENSP00000491999.1:n.901T>A
ENST00000640390.1:n.793T>A
ENST00000640469.1:c.227T>A	ENSP00000491875.1:p.Phe76Tyr
ENST00000640560.1:n.639T>A
ENST00000640893.1:c.*261T>A	ENSP00000492677.1:n.*261T>A
ENST00000262493.10:c.863T>A	ENSP00000262493.6:p.Phe288Tyr
ENST00000564727.1:c.83T>A	ENSP00000454971.1:p.Phe28Tyr
ENST00000568375.1:n.116-3343T>A
NM_020988.2:c.863T>A	NP_066268.1:p.Phe288Tyr
XM_011523003.1:c.737T>A	XP_011521305.1:p.Phe246Tyr
XM_011523003.3:c.737T>A	XP_011521305.1:p.Phe246Tyr
NM_020988.3:c.863T>A MANE Select	NP_066268.1:p.Phe288Tyr