Canonical Allele Identifier: CA2224102510

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336821C= , CM000678.2:g.56336821C=	GRCh38
NC_000016.9:g.56370733C= , CM000678.1:g.56370733C=	GRCh37
NC_000016.8:g.54928234C=	NCBI36
NG_042800.1:g.150483C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.684C=	ENSP00000262494.7:p.Leu228=
ENST00000262493.12:c.684C= MANE Select	ENSP00000262493.6:p.Leu228=
ENST00000262494.12:c.684C=	ENSP00000262494.7:p.Leu228=
ENST00000562316.6:c.351C=	ENSP00000457238.2:p.Leu117=
ENST00000568375.2:c.76C=
ENST00000638185.1:n.899C=
ENST00000638210.1:n.984C=
ENST00000638705.1:c.684C=	ENSP00000491223.1:p.Leu228=
ENST00000638836.1:n.594C=
ENST00000639055.1:n.1405C=
ENST00000639251.1:n.585C=
ENST00000639268.1:c.319C=
ENST00000639341.1:c.209C=
ENST00000639770.1:c.722C=	ENSP00000491999.1:n.722C=
ENST00000640390.1:n.614C=
ENST00000640469.1:c.48C=	ENSP00000491875.1:p.Leu16=
ENST00000640560.1:n.460C=
ENST00000640893.1:c.*82C=	ENSP00000492677.1:n.*82C=
ENST00000262493.10:c.684C=	ENSP00000262493.6:p.Leu228=
ENST00000262494.11:c.684C=	ENSP00000262494.7:p.Leu228=
ENST00000568375.1:n.76C=
NM_020988.2:c.684C=	NP_066268.1:p.Leu228=
NM_138736.2:c.684C=	NP_620073.2:p.Leu228=
XM_011523003.1:c.558C=	XP_011521305.1:p.Leu186=
XM_011523003.3:c.558C=	XP_011521305.1:p.Leu186=
NM_020988.3:c.684C= MANE Select	NP_066268.1:p.Leu228=
NM_138736.3:c.684C=	NP_620073.2:p.Leu228=