Canonical Allele Identifier: CA2571809500

Gene: GNAO1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351482C>A , CM000678.2:g.56351482C>A	GRCh38
NC_000016.9:g.56385394C>A , CM000678.1:g.56385394C>A	GRCh37
NC_000016.8:g.54942895C>A	NCBI36
NG_042800.1:g.165144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.822C>A MANE Select	ENSP00000262493.6:p.Leu274=
ENST00000562316.6:c.489C>A	ENSP00000457238.2:p.Leu163=
ENST00000564727.2:c.126C>A	ENSP00000454971.2:p.Leu42=
ENST00000568375.2:c.116-3384C>A
ENST00000638185.1:n.1037C>A
ENST00000638210.1:n.1122C>A
ENST00000638705.1:c.822C>A	ENSP00000491223.1:p.Leu274=
ENST00000638836.1:n.732C>A
ENST00000639055.1:n.1543C>A
ENST00000639251.1:n.723C>A
ENST00000639268.1:c.457C>A
ENST00000639341.1:c.347C>A
ENST00000639770.1:c.860C>A	ENSP00000491999.1:n.860C>A
ENST00000640390.1:n.752C>A
ENST00000640469.1:c.186C>A	ENSP00000491875.1:p.Leu62=
ENST00000640560.1:n.598C>A
ENST00000640893.1:c.*220C>A	ENSP00000492677.1:n.*220C>A
ENST00000262493.10:c.822C>A	ENSP00000262493.6:p.Leu274=
ENST00000564727.1:c.42C>A	ENSP00000454971.1:p.Leu14=
ENST00000568375.1:n.116-3384C>A
NM_020988.2:c.822C>A	NP_066268.1:p.Leu274=
XM_011523003.1:c.696C>A	XP_011521305.1:p.Leu232=
XM_011523003.3:c.696C>A	XP_011521305.1:p.Leu232=
NM_020988.3:c.822C>A MANE Select	NP_066268.1:p.Leu274=