Canonical Allele Identifier: CA395955181

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388874G>T (hg19) ; chr16:g.56354962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354962G>T , CM000678.2:g.56354962G>T	GRCh38
NC_000016.9:g.56388874G>T , CM000678.1:g.56388874G>T	GRCh37
NC_000016.8:g.54946375G>T	NCBI36
NG_042800.1:g.168624G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.974G>T MANE Select	ENSP00000262493.6:p.Cys325Phe
ENST00000562316.6:c.545-1141G>T	ENSP00000457238.2:n.545-1141G>T
ENST00000564727.2:c.278G>T	ENSP00000454971.2:p.Cys93Phe
ENST00000568375.2:c.212G>T
ENST00000638210.1:n.1274G>T
ENST00000638705.1:c.974G>T	ENSP00000491223.1:p.Cys325Phe
ENST00000638836.1:n.884G>T
ENST00000639251.1:n.875G>T
ENST00000639268.1:c.609G>T
ENST00000639341.1:c.499G>T
ENST00000639770.1:c.1012G>T	ENSP00000491999.1:n.1012G>T
ENST00000640390.1:n.904G>T
ENST00000640469.1:c.338G>T	ENSP00000491875.1:p.Cys113Phe
ENST00000640560.1:n.750G>T
ENST00000640893.1:c.*372G>T	ENSP00000492677.1:n.*372G>T
ENST00000262493.10:c.974G>T	ENSP00000262493.6:p.Cys325Phe
ENST00000564727.1:c.194G>T	ENSP00000454971.1:p.Cys65Phe
ENST00000568375.1:n.212G>T
NM_020988.2:c.974G>T	NP_066268.1:p.Cys325Phe
XM_011523003.1:c.848G>T	XP_011521305.1:p.Cys283Phe
XM_011523003.3:c.848G>T	XP_011521305.1:p.Cys283Phe
NM_020988.3:c.974G>T MANE Select	NP_066268.1:p.Cys325Phe