Canonical Allele Identifier: CA395954712

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351440-C-A
• MyVariant Identifiers: chr16:g.56385352C>A (hg19) ; chr16:g.56351440C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351440C>A , CM000678.2:g.56351440C>A	GRCh38
NC_000016.9:g.56385352C>A , CM000678.1:g.56385352C>A	GRCh37
NC_000016.8:g.54942853C>A	NCBI36
NG_042800.1:g.165102C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.780C>A MANE Select	ENSP00000262493.6:p.Phe260Leu
ENST00000562316.6:c.447C>A	ENSP00000457238.2:p.Phe149Leu
ENST00000564727.2:c.84C>A	ENSP00000454971.2:p.Phe28Leu
ENST00000568375.2:c.116-3426C>A
ENST00000638185.1:n.995C>A
ENST00000638210.1:n.1080C>A
ENST00000638705.1:c.780C>A	ENSP00000491223.1:p.Phe260Leu
ENST00000638836.1:n.690C>A
ENST00000639055.1:n.1501C>A
ENST00000639251.1:n.681C>A
ENST00000639268.1:c.415C>A
ENST00000639341.1:c.305C>A
ENST00000639770.1:c.818C>A	ENSP00000491999.1:n.818C>A
ENST00000640390.1:n.710C>A
ENST00000640469.1:c.144C>A	ENSP00000491875.1:p.Phe48Leu
ENST00000640560.1:n.556C>A
ENST00000640893.1:c.*178C>A	ENSP00000492677.1:n.*178C>A
ENST00000262493.10:c.780C>A	ENSP00000262493.6:p.Phe260Leu
ENST00000568375.1:n.116-3426C>A
NM_020988.2:c.780C>A	NP_066268.1:p.Phe260Leu
XM_011523003.1:c.654C>A	XP_011521305.1:p.Phe218Leu
XM_011523003.3:c.654C>A	XP_011521305.1:p.Phe218Leu
NM_020988.3:c.780C>A MANE Select	NP_066268.1:p.Phe260Leu