Canonical Allele Identifier: CA395954847

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385409C>G (hg19) ; chr16:g.56351497C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351497C>G , CM000678.2:g.56351497C>G	GRCh38
NC_000016.9:g.56385409C>G , CM000678.1:g.56385409C>G	GRCh37
NC_000016.8:g.54942910C>G	NCBI36
NG_042800.1:g.165159C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.837C>G MANE Select	ENSP00000262493.6:p.Ile279Met
ENST00000562316.6:c.504C>G	ENSP00000457238.2:p.Ile168Met
ENST00000564727.2:c.141C>G	ENSP00000454971.2:p.Ile47Met
ENST00000568375.2:c.116-3369C>G
ENST00000638185.1:n.1052C>G
ENST00000638210.1:n.1137C>G
ENST00000638705.1:c.837C>G	ENSP00000491223.1:p.Ile279Met
ENST00000638836.1:n.747C>G
ENST00000639055.1:n.1558C>G
ENST00000639251.1:n.738C>G
ENST00000639268.1:c.472C>G
ENST00000639341.1:c.362C>G
ENST00000639770.1:c.875C>G	ENSP00000491999.1:n.875C>G
ENST00000640390.1:n.767C>G
ENST00000640469.1:c.201C>G	ENSP00000491875.1:p.Ile67Met
ENST00000640560.1:n.613C>G
ENST00000640893.1:c.*235C>G	ENSP00000492677.1:n.*235C>G
ENST00000262493.10:c.837C>G	ENSP00000262493.6:p.Ile279Met
ENST00000564727.1:c.57C>G	ENSP00000454971.1:p.Ile19Met
ENST00000568375.1:n.116-3369C>G
NM_020988.2:c.837C>G	NP_066268.1:p.Ile279Met
XM_011523003.1:c.711C>G	XP_011521305.1:p.Ile237Met
XM_011523003.3:c.711C>G	XP_011521305.1:p.Ile237Met
NM_020988.3:c.837C>G MANE Select	NP_066268.1:p.Ile279Met