Canonical Allele Identifier: CA495585981

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56354984-C-A
• MyVariant Identifiers: chr16:g.56388896C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354984C>A , CM000678.2:g.56354984C>A	GRCh38
NC_000016.9:g.56388896C>A , CM000678.1:g.56388896C>A	GRCh37
NC_000016.8:g.54946397C>A	NCBI36
NG_042800.1:g.168646C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.996C>A MANE Select	ENSP00000262493.6:p.Ile332=
ENST00000562316.6:c.545-1119C>A	ENSP00000457238.2:n.545-1119C>A
ENST00000564727.2:c.300C>A	ENSP00000454971.2:p.Ile100=
ENST00000568375.2:c.234C>A
ENST00000638210.1:n.1296C>A
ENST00000638705.1:c.996C>A	ENSP00000491223.1:p.Ile332=
ENST00000638836.1:n.906C>A
ENST00000639251.1:n.897C>A
ENST00000639268.1:c.631C>A
ENST00000639341.1:c.521C>A
ENST00000639770.1:c.1034C>A	ENSP00000491999.1:n.1034C>A
ENST00000640390.1:n.926C>A
ENST00000640469.1:c.360C>A	ENSP00000491875.1:p.Ile120=
ENST00000640560.1:n.772C>A
ENST00000640893.1:c.*394C>A	ENSP00000492677.1:n.*394C>A
ENST00000262493.10:c.996C>A	ENSP00000262493.6:p.Ile332=
ENST00000564727.1:c.216C>A	ENSP00000454971.1:p.Ile72=
ENST00000568375.1:n.234C>A
NM_020988.2:c.996C>A	NP_066268.1:p.Ile332=
XM_011523003.1:c.870C>A	XP_011521305.1:p.Ile290=
XM_011523003.3:c.870C>A	XP_011521305.1:p.Ile290=
NM_020988.3:c.996C>A MANE Select	NP_066268.1:p.Ile332=