Canonical Allele Identifier: CA395954704

Gene: GNAO1

Linked Data

• COSMIC: COSM971652
• MyVariant Identifiers: chr16:g.56385349C>A (hg19) ; chr16:g.56351437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351437C>A , CM000678.2:g.56351437C>A	GRCh38
NC_000016.9:g.56385349C>A , CM000678.1:g.56385349C>A	GRCh37
NC_000016.8:g.54942850C>A	NCBI36
NG_042800.1:g.165099C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.777C>A MANE Select	ENSP00000262493.6:p.Phe259Leu
ENST00000562316.6:c.444C>A	ENSP00000457238.2:p.Phe148Leu
ENST00000564727.2:c.81C>A	ENSP00000454971.2:p.Phe27Leu
ENST00000568375.2:c.116-3429C>A
ENST00000638185.1:n.992C>A
ENST00000638210.1:n.1077C>A
ENST00000638705.1:c.777C>A	ENSP00000491223.1:p.Phe259Leu
ENST00000638836.1:n.687C>A
ENST00000639055.1:n.1498C>A
ENST00000639251.1:n.678C>A
ENST00000639268.1:c.412C>A
ENST00000639341.1:c.302C>A
ENST00000639770.1:c.815C>A	ENSP00000491999.1:n.815C>A
ENST00000640390.1:n.707C>A
ENST00000640469.1:c.141C>A	ENSP00000491875.1:p.Phe47Leu
ENST00000640560.1:n.553C>A
ENST00000640893.1:c.*175C>A	ENSP00000492677.1:n.*175C>A
ENST00000262493.10:c.777C>A	ENSP00000262493.6:p.Phe259Leu
ENST00000568375.1:n.116-3429C>A
NM_020988.2:c.777C>A	NP_066268.1:p.Phe259Leu
XM_011523003.1:c.651C>A	XP_011521305.1:p.Phe217Leu
XM_011523003.3:c.651C>A	XP_011521305.1:p.Phe217Leu
NM_020988.3:c.777C>A MANE Select	NP_066268.1:p.Phe259Leu