Canonical Allele Identifier: CA2633315151

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56336804-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336808dup , CM000678.2:g.56336808dup	GRCh38
NC_000016.9:g.56370720dup , CM000678.1:g.56370720dup	GRCh37
NC_000016.8:g.54928221dup	NCBI36
NG_042800.1:g.150470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.671dup	ENSP00000262494.7:p.Cys225LeufsTer8
ENST00000262493.12:c.671dup MANE Select	ENSP00000262493.6:p.Cys225LeufsTer8
ENST00000262494.12:c.671dup	ENSP00000262494.7:p.Cys225LeufsTer8
ENST00000562316.6:c.338dup	ENSP00000457238.2:p.Cys114LeufsTer8
ENST00000568375.2:c.63dup
ENST00000638185.1:n.886dup
ENST00000638210.1:n.971dup
ENST00000638705.1:c.671dup	ENSP00000491223.1:p.Cys225LeufsTer8
ENST00000638836.1:n.581dup
ENST00000639055.1:n.1392dup
ENST00000639251.1:n.572dup
ENST00000639268.1:c.306dup
ENST00000639341.1:c.196dup
ENST00000639770.1:c.709dup	ENSP00000491999.1:n.709dup
ENST00000640390.1:n.601dup
ENST00000640469.1:c.35dup	ENSP00000491875.1:p.Cys13LeufsTer8
ENST00000640560.1:n.447dup
ENST00000640893.1:c.*69dup	ENSP00000492677.1:n.*69dup
ENST00000262493.10:c.671dup	ENSP00000262493.6:p.Cys225LeufsTer8
ENST00000262494.11:c.671dup	ENSP00000262494.7:p.Cys225LeufsTer8
ENST00000568375.1:n.63dup
NM_020988.2:c.671dup	NP_066268.1:p.Cys225LeufsTer8
NM_138736.2:c.671dup	NP_620073.2:p.Cys225LeufsTer8
XM_011523003.1:c.545dup	XP_011521305.1:p.Cys183LeufsTer8
XM_011523003.3:c.545dup	XP_011521305.1:p.Cys183LeufsTer8
NM_020988.3:c.671dup MANE Select	NP_066268.1:p.Cys225LeufsTer8
NM_138736.3:c.671dup	NP_620073.2:p.Cys225LeufsTer8