Canonical Allele Identifier: CA2224101602

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334849C= , CM000678.2:g.56334849C=	GRCh38
NC_000016.9:g.56368761C= , CM000678.1:g.56368761C=	GRCh37
NC_000016.8:g.54926262C=	NCBI36
NG_042800.1:g.148511C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.585C=	ENSP00000262494.7:p.Leu195=
ENST00000262493.12:c.585C= MANE Select	ENSP00000262493.6:p.Leu195=
ENST00000262494.12:c.585C=	ENSP00000262494.7:p.Leu195=
ENST00000562316.6:c.252C=	ENSP00000457238.2:p.Leu84=
ENST00000638185.1:n.800C=
ENST00000638210.1:n.885C=
ENST00000638705.1:c.585C=	ENSP00000491223.1:p.Leu195=
ENST00000638836.1:n.495C=
ENST00000639055.1:n.1306C=
ENST00000639251.1:n.486C=
ENST00000639268.1:c.229-1882C=
ENST00000639341.1:c.110C=
ENST00000639770.1:c.623C=	ENSP00000491999.1:n.623C=
ENST00000640390.1:n.515C=
ENST00000640893.1:c.424C=	ENSP00000492677.1:p.Pro142=
ENST00000262493.10:c.585C=	ENSP00000262493.6:p.Leu195=
ENST00000262494.11:c.585C=	ENSP00000262494.7:p.Leu195=
ENST00000562316.5:c.324C=	ENSP00000457238.1:p.Leu108=
NM_020988.2:c.585C=	NP_066268.1:p.Leu195=
NM_138736.2:c.585C=	NP_620073.2:p.Leu195=
XM_011523003.1:c.459C=	XP_011521305.1:p.Leu153=
XM_011523003.3:c.459C=	XP_011521305.1:p.Leu153=
NM_020988.3:c.585C= MANE Select	NP_066268.1:p.Leu195=
NM_138736.3:c.585C=	NP_620073.2:p.Leu195=