Canonical Allele Identifier: CA395954603

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385308G>T (hg19) ; chr16:g.56351396G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351396G>T , CM000678.2:g.56351396G>T	GRCh38
NC_000016.9:g.56385308G>T , CM000678.1:g.56385308G>T	GRCh37
NC_000016.8:g.54942809G>T	NCBI36
NG_042800.1:g.165058G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.736G>T MANE Select	ENSP00000262493.6:p.Glu246Ter
ENST00000562316.6:c.403G>T	ENSP00000457238.2:p.Glu135Ter
ENST00000564727.2:c.40G>T	ENSP00000454971.2:p.Glu14Ter
ENST00000568375.2:c.116-3470G>T
ENST00000638185.1:n.951G>T
ENST00000638210.1:n.1036G>T
ENST00000638705.1:c.736G>T	ENSP00000491223.1:p.Glu246Ter
ENST00000638836.1:n.646G>T
ENST00000639055.1:n.1457G>T
ENST00000639251.1:n.637G>T
ENST00000639268.1:c.371G>T
ENST00000639341.1:c.261G>T
ENST00000639770.1:c.774G>T	ENSP00000491999.1:n.774G>T
ENST00000640390.1:n.666G>T
ENST00000640469.1:c.100G>T	ENSP00000491875.1:p.Glu34Ter
ENST00000640560.1:n.512G>T
ENST00000640893.1:c.*134G>T	ENSP00000492677.1:n.*134G>T
ENST00000262493.10:c.736G>T	ENSP00000262493.6:p.Glu246Ter
ENST00000568375.1:n.116-3470G>T
NM_020988.2:c.736G>T	NP_066268.1:p.Glu246Ter
XM_011523003.1:c.610G>T	XP_011521305.1:p.Glu204Ter
XM_011523003.3:c.610G>T	XP_011521305.1:p.Glu204Ter
NM_020988.3:c.736G>T MANE Select	NP_066268.1:p.Glu246Ter