Canonical Allele Identifier: CA395954808

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2813289
• ClinVar RCV Id: RCV003754163
• MyVariant Identifiers: chr16:g.56385392C>A (hg19) ; chr16:g.56351480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351480C>A , CM000678.2:g.56351480C>A	GRCh38
NC_000016.9:g.56385392C>A , CM000678.1:g.56385392C>A	GRCh37
NC_000016.8:g.54942893C>A	NCBI36
NG_042800.1:g.165142C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.820C>A MANE Select	ENSP00000262493.6:p.Leu274Ile
ENST00000562316.6:c.487C>A	ENSP00000457238.2:p.Leu163Ile
ENST00000564727.2:c.124C>A	ENSP00000454971.2:p.Leu42Ile
ENST00000568375.2:c.116-3386C>A
ENST00000638185.1:n.1035C>A
ENST00000638210.1:n.1120C>A
ENST00000638705.1:c.820C>A	ENSP00000491223.1:p.Leu274Ile
ENST00000638836.1:n.730C>A
ENST00000639055.1:n.1541C>A
ENST00000639251.1:n.721C>A
ENST00000639268.1:c.455C>A
ENST00000639341.1:c.345C>A
ENST00000639770.1:c.858C>A	ENSP00000491999.1:n.858C>A
ENST00000640390.1:n.750C>A
ENST00000640469.1:c.184C>A	ENSP00000491875.1:p.Leu62Ile
ENST00000640560.1:n.596C>A
ENST00000640893.1:c.*218C>A	ENSP00000492677.1:n.*218C>A
ENST00000262493.10:c.820C>A	ENSP00000262493.6:p.Leu274Ile
ENST00000564727.1:c.40C>A	ENSP00000454971.1:p.Leu14Ile
ENST00000568375.1:n.116-3386C>A
NM_020988.2:c.820C>A	NP_066268.1:p.Leu274Ile
XM_011523003.1:c.694C>A	XP_011521305.1:p.Leu232Ile
XM_011523003.3:c.694C>A	XP_011521305.1:p.Leu232Ile
NM_020988.3:c.820C>A MANE Select	NP_066268.1:p.Leu274Ile