Canonical Allele Identifier: CA395955404

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388942C>A (hg19) ; chr16:g.56355030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355030C>A , CM000678.2:g.56355030C>A	GRCh38
NC_000016.9:g.56388942C>A , CM000678.1:g.56388942C>A	GRCh37
NC_000016.8:g.54946443C>A	NCBI36
NG_042800.1:g.168692C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1042C>A MANE Select	ENSP00000262493.6:p.Leu348Ile
ENST00000562316.6:c.545-1073C>A	ENSP00000457238.2:n.545-1073C>A
ENST00000564727.2:c.303+43C>A	ENSP00000454971.2:n.303+43C>A
ENST00000568375.2:c.280C>A
ENST00000638210.1:n.1342C>A
ENST00000638705.1:c.1042C>A	ENSP00000491223.1:p.Leu348Ile
ENST00000638836.1:n.952C>A
ENST00000639251.1:n.943C>A
ENST00000639268.1:c.677C>A
ENST00000639341.1:c.567C>A
ENST00000639770.1:c.1080C>A	ENSP00000491999.1:n.1080C>A
ENST00000640390.1:n.972C>A
ENST00000640469.1:c.406C>A	ENSP00000491875.1:p.Leu136Ile
ENST00000640560.1:n.818C>A
ENST00000640893.1:c.*440C>A	ENSP00000492677.1:n.*440C>A
ENST00000262493.10:c.1042C>A	ENSP00000262493.6:p.Leu348Ile
ENST00000564727.1:c.262C>A	ENSP00000454971.1:p.Leu88Ile
ENST00000568375.1:n.280C>A
NM_020988.2:c.1042C>A	NP_066268.1:p.Leu348Ile
XM_011523003.1:c.916C>A	XP_011521305.1:p.Leu306Ile
XM_011523003.3:c.916C>A	XP_011521305.1:p.Leu306Ile
NM_020988.3:c.1042C>A MANE Select	NP_066268.1:p.Leu348Ile