Canonical Allele Identifier: CA395954698

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385347T>A (hg19) ; chr16:g.56351435T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351435T>A , CM000678.2:g.56351435T>A	GRCh38
NC_000016.9:g.56385347T>A , CM000678.1:g.56385347T>A	GRCh37
NC_000016.8:g.54942848T>A	NCBI36
NG_042800.1:g.165097T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.775T>A MANE Select	ENSP00000262493.6:p.Phe259Ile
ENST00000562316.6:c.442T>A	ENSP00000457238.2:p.Phe148Ile
ENST00000564727.2:c.79T>A	ENSP00000454971.2:p.Phe27Ile
ENST00000568375.2:c.116-3431T>A
ENST00000638185.1:n.990T>A
ENST00000638210.1:n.1075T>A
ENST00000638705.1:c.775T>A	ENSP00000491223.1:p.Phe259Ile
ENST00000638836.1:n.685T>A
ENST00000639055.1:n.1496T>A
ENST00000639251.1:n.676T>A
ENST00000639268.1:c.410T>A
ENST00000639341.1:c.300T>A
ENST00000639770.1:c.813T>A	ENSP00000491999.1:n.813T>A
ENST00000640390.1:n.705T>A
ENST00000640469.1:c.139T>A	ENSP00000491875.1:p.Phe47Ile
ENST00000640560.1:n.551T>A
ENST00000640893.1:c.*173T>A	ENSP00000492677.1:n.*173T>A
ENST00000262493.10:c.775T>A	ENSP00000262493.6:p.Phe259Ile
ENST00000568375.1:n.116-3431T>A
NM_020988.2:c.775T>A	NP_066268.1:p.Phe259Ile
XM_011523003.1:c.649T>A	XP_011521305.1:p.Phe217Ile
XM_011523003.3:c.649T>A	XP_011521305.1:p.Phe217Ile
NM_020988.3:c.775T>A MANE Select	NP_066268.1:p.Phe259Ile