Canonical Allele Identifier: CA395955148

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388862G>A (hg19) ; chr16:g.56354950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354950G>A , CM000678.2:g.56354950G>A	GRCh38
NC_000016.9:g.56388862G>A , CM000678.1:g.56388862G>A	GRCh37
NC_000016.8:g.54946363G>A	NCBI36
NG_042800.1:g.168612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.962G>A MANE Select	ENSP00000262493.6:p.Cys321Tyr
ENST00000562316.6:c.545-1153G>A	ENSP00000457238.2:n.545-1153G>A
ENST00000564727.2:c.266G>A	ENSP00000454971.2:p.Cys89Tyr
ENST00000568375.2:c.200G>A
ENST00000638210.1:n.1262G>A
ENST00000638705.1:c.962G>A	ENSP00000491223.1:p.Cys321Tyr
ENST00000638836.1:n.872G>A
ENST00000639251.1:n.863G>A
ENST00000639268.1:c.597G>A
ENST00000639341.1:c.487G>A
ENST00000639770.1:c.1000G>A	ENSP00000491999.1:n.1000G>A
ENST00000640390.1:n.892G>A
ENST00000640469.1:c.326G>A	ENSP00000491875.1:p.Cys109Tyr
ENST00000640560.1:n.738G>A
ENST00000640893.1:c.*360G>A	ENSP00000492677.1:n.*360G>A
ENST00000262493.10:c.962G>A	ENSP00000262493.6:p.Cys321Tyr
ENST00000564727.1:c.182G>A	ENSP00000454971.1:p.Cys61Tyr
ENST00000568375.1:n.200G>A
NM_020988.2:c.962G>A	NP_066268.1:p.Cys321Tyr
XM_011523003.1:c.836G>A	XP_011521305.1:p.Cys279Tyr
XM_011523003.3:c.836G>A	XP_011521305.1:p.Cys279Tyr
NM_020988.3:c.962G>A MANE Select	NP_066268.1:p.Cys321Tyr