Canonical Allele Identifier: CA2224102509

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336820T= , CM000678.2:g.56336820T=	GRCh38
NC_000016.9:g.56370732T= , CM000678.1:g.56370732T=	GRCh37
NC_000016.8:g.54928233T=	NCBI36
NG_042800.1:g.150482T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.683T=	ENSP00000262494.7:p.Leu228=
ENST00000262493.12:c.683T= MANE Select	ENSP00000262493.6:p.Leu228=
ENST00000262494.12:c.683T=	ENSP00000262494.7:p.Leu228=
ENST00000562316.6:c.350T=	ENSP00000457238.2:p.Leu117=
ENST00000568375.2:c.75T=
ENST00000638185.1:n.898T=
ENST00000638210.1:n.983T=
ENST00000638705.1:c.683T=	ENSP00000491223.1:p.Leu228=
ENST00000638836.1:n.593T=
ENST00000639055.1:n.1404T=
ENST00000639251.1:n.584T=
ENST00000639268.1:c.318T=
ENST00000639341.1:c.208T=
ENST00000639770.1:c.721T=	ENSP00000491999.1:n.721T=
ENST00000640390.1:n.613T=
ENST00000640469.1:c.47T=	ENSP00000491875.1:p.Leu16=
ENST00000640560.1:n.459T=
ENST00000640893.1:c.*81T=	ENSP00000492677.1:n.*81T=
ENST00000262493.10:c.683T=	ENSP00000262493.6:p.Leu228=
ENST00000262494.11:c.683T=	ENSP00000262494.7:p.Leu228=
ENST00000568375.1:n.75T=
NM_020988.2:c.683T=	NP_066268.1:p.Leu228=
NM_138736.2:c.683T=	NP_620073.2:p.Leu228=
XM_011523003.1:c.557T=	XP_011521305.1:p.Leu186=
XM_011523003.3:c.557T=	XP_011521305.1:p.Leu186=
NM_020988.3:c.683T= MANE Select	NP_066268.1:p.Leu228=
NM_138736.3:c.683T=	NP_620073.2:p.Leu228=