Canonical Allele Identifier: CA8064002

Gene: GNAO1

Linked Data

• dbSNP Id: rs768674142
• ExAC: 16:56385437 C / G
• gnomAD v2: 16-56385437-C-G
• MyVariant Identifiers: chr16:g.56385437C>G (hg19) ; chr16:g.56351525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351525C>G , CM000678.2:g.56351525C>G	GRCh38
NC_000016.9:g.56385437C>G , CM000678.1:g.56385437C>G	GRCh37
NC_000016.8:g.54942938C>G	NCBI36
NG_042800.1:g.165187C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.865C>G MANE Select	ENSP00000262493.6:p.Pro289Ala
ENST00000562316.6:c.532C>G	ENSP00000457238.2:p.Pro178Ala
ENST00000564727.2:c.169C>G	ENSP00000454971.2:p.Pro57Ala
ENST00000568375.2:c.116-3341C>G
ENST00000638185.1:n.1080C>G
ENST00000638210.1:n.1165C>G
ENST00000638705.1:c.865C>G	ENSP00000491223.1:p.Pro289Ala
ENST00000638836.1:n.775C>G
ENST00000639055.1:n.1586C>G
ENST00000639251.1:n.766C>G
ENST00000639268.1:c.500C>G
ENST00000639341.1:c.390C>G
ENST00000639770.1:c.903C>G	ENSP00000491999.1:n.903C>G
ENST00000640390.1:n.795C>G
ENST00000640469.1:c.229C>G	ENSP00000491875.1:p.Pro77Ala
ENST00000640560.1:n.641C>G
ENST00000640893.1:c.*263C>G	ENSP00000492677.1:n.*263C>G
ENST00000262493.10:c.865C>G	ENSP00000262493.6:p.Pro289Ala
ENST00000564727.1:c.85C>G	ENSP00000454971.1:p.Pro29Ala
ENST00000568375.1:n.116-3341C>G
NM_020988.2:c.865C>G	NP_066268.1:p.Pro289Ala
XM_011523003.1:c.739C>G	XP_011521305.1:p.Pro247Ala
XM_011523003.3:c.739C>G	XP_011521305.1:p.Pro247Ala
NM_020988.3:c.865C>G MANE Select	NP_066268.1:p.Pro289Ala