Canonical Allele Identifier: CA395955075

Gene: GNAO1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.932A>C MANE Select	ENSP00000262493.6:p.Lys311Thr
ENST00000562316.6:c.545-1183A>C	ENSP00000457238.2:n.545-1183A>C
ENST00000564727.2:c.236A>C	ENSP00000454971.2:p.Lys79Thr
ENST00000568375.2:c.170A>C
ENST00000638185.1:n.1147A>C
ENST00000638210.1:n.1232A>C
ENST00000638705.1:c.932A>C	ENSP00000491223.1:p.Lys311Thr
ENST00000638836.1:n.842A>C
ENST00000639055.1:n.1653A>C
ENST00000639251.1:n.833A>C
ENST00000639268.1:c.567A>C
ENST00000639341.1:c.457A>C
ENST00000639770.1:c.970A>C	ENSP00000491999.1:n.970A>C
ENST00000640390.1:n.862A>C
ENST00000640469.1:c.296A>C	ENSP00000491875.1:p.Lys99Thr
ENST00000640560.1:n.708A>C
ENST00000640893.1:c.*330A>C	ENSP00000492677.1:n.*330A>C
ENST00000262493.10:c.932A>C	ENSP00000262493.6:p.Lys311Thr
ENST00000564727.1:c.152A>C	ENSP00000454971.1:p.Lys51Thr
ENST00000568375.1:n.170A>C
NM_020988.2:c.932A>C	NP_066268.1:p.Lys311Thr
XM_011523003.1:c.806A>C	XP_011521305.1:p.Lys269Thr
XM_011523003.3:c.806A>C	XP_011521305.1:p.Lys269Thr
NM_020988.3:c.932A>C MANE Select	NP_066268.1:p.Lys311Thr