Canonical Allele Identifier: CA395955338

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388924A>T (hg19) ; chr16:g.56355012A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355012A>T , CM000678.2:g.56355012A>T	GRCh38
NC_000016.9:g.56388924A>T , CM000678.1:g.56388924A>T	GRCh37
NC_000016.8:g.54946425A>T	NCBI36
NG_042800.1:g.168674A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1024A>T MANE Select	ENSP00000262493.6:p.Ile342Phe
ENST00000562316.6:c.545-1091A>T	ENSP00000457238.2:n.545-1091A>T
ENST00000564727.2:c.303+25A>T	ENSP00000454971.2:n.303+25A>T
ENST00000568375.2:c.262A>T
ENST00000638210.1:n.1324A>T
ENST00000638705.1:c.1024A>T	ENSP00000491223.1:p.Ile342Phe
ENST00000638836.1:n.934A>T
ENST00000639251.1:n.925A>T
ENST00000639268.1:c.659A>T
ENST00000639341.1:c.549A>T
ENST00000639770.1:c.1062A>T	ENSP00000491999.1:n.1062A>T
ENST00000640390.1:n.954A>T
ENST00000640469.1:c.388A>T	ENSP00000491875.1:p.Ile130Phe
ENST00000640560.1:n.800A>T
ENST00000640893.1:c.*422A>T	ENSP00000492677.1:n.*422A>T
ENST00000262493.10:c.1024A>T	ENSP00000262493.6:p.Ile342Phe
ENST00000564727.1:c.244A>T	ENSP00000454971.1:p.Ile82Phe
ENST00000568375.1:n.262A>T
NM_020988.2:c.1024A>T	NP_066268.1:p.Ile342Phe
XM_011523003.1:c.898A>T	XP_011521305.1:p.Ile300Phe
XM_011523003.3:c.898A>T	XP_011521305.1:p.Ile300Phe
NM_020988.3:c.1024A>T MANE Select	NP_066268.1:p.Ile342Phe