Canonical Allele Identifier: CA395955077

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388832A>T (hg19) ; chr16:g.56354920A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354920A>T , CM000678.2:g.56354920A>T	GRCh38
NC_000016.9:g.56388832A>T , CM000678.1:g.56388832A>T	GRCh37
NC_000016.8:g.54946333A>T	NCBI36
NG_042800.1:g.168582A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.932A>T MANE Select	ENSP00000262493.6:p.Lys311Ile
ENST00000562316.6:c.545-1183A>T	ENSP00000457238.2:n.545-1183A>T
ENST00000564727.2:c.236A>T	ENSP00000454971.2:p.Lys79Ile
ENST00000568375.2:c.170A>T
ENST00000638185.1:n.1147A>T
ENST00000638210.1:n.1232A>T
ENST00000638705.1:c.932A>T	ENSP00000491223.1:p.Lys311Ile
ENST00000638836.1:n.842A>T
ENST00000639055.1:n.1653A>T
ENST00000639251.1:n.833A>T
ENST00000639268.1:c.567A>T
ENST00000639341.1:c.457A>T
ENST00000639770.1:c.970A>T	ENSP00000491999.1:n.970A>T
ENST00000640390.1:n.862A>T
ENST00000640469.1:c.296A>T	ENSP00000491875.1:p.Lys99Ile
ENST00000640560.1:n.708A>T
ENST00000640893.1:c.*330A>T	ENSP00000492677.1:n.*330A>T
ENST00000262493.10:c.932A>T	ENSP00000262493.6:p.Lys311Ile
ENST00000564727.1:c.152A>T	ENSP00000454971.1:p.Lys51Ile
ENST00000568375.1:n.170A>T
NM_020988.2:c.932A>T	NP_066268.1:p.Lys311Ile
XM_011523003.1:c.806A>T	XP_011521305.1:p.Lys269Ile
XM_011523003.3:c.806A>T	XP_011521305.1:p.Lys269Ile
NM_020988.3:c.932A>T MANE Select	NP_066268.1:p.Lys311Ile