Canonical Allele Identifier: CA395955207

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2444689
• ClinVar RCV Id: RCV003154445
• COSMIC: COSM5802668
• MyVariant Identifiers: chr16:g.56388886C>T (hg19) ; chr16:g.56354974C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354974C>T , CM000678.2:g.56354974C>T	GRCh38
NC_000016.9:g.56388886C>T , CM000678.1:g.56388886C>T	GRCh37
NC_000016.8:g.54946387C>T	NCBI36
NG_042800.1:g.168636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.986C>T MANE Select	ENSP00000262493.6:p.Thr329Met
ENST00000562316.6:c.545-1129C>T	ENSP00000457238.2:n.545-1129C>T
ENST00000564727.2:c.290C>T	ENSP00000454971.2:p.Thr97Met
ENST00000568375.2:c.224C>T
ENST00000638210.1:n.1286C>T
ENST00000638705.1:c.986C>T	ENSP00000491223.1:p.Thr329Met
ENST00000638836.1:n.896C>T
ENST00000639251.1:n.887C>T
ENST00000639268.1:c.621C>T
ENST00000639341.1:c.511C>T
ENST00000639770.1:c.1024C>T	ENSP00000491999.1:n.1024C>T
ENST00000640390.1:n.916C>T
ENST00000640469.1:c.350C>T	ENSP00000491875.1:p.Thr117Met
ENST00000640560.1:n.762C>T
ENST00000640893.1:c.*384C>T	ENSP00000492677.1:n.*384C>T
ENST00000262493.10:c.986C>T	ENSP00000262493.6:p.Thr329Met
ENST00000564727.1:c.206C>T	ENSP00000454971.1:p.Thr69Met
ENST00000568375.1:n.224C>T
NM_020988.2:c.986C>T	NP_066268.1:p.Thr329Met
XM_011523003.1:c.860C>T	XP_011521305.1:p.Thr287Met
XM_011523003.3:c.860C>T	XP_011521305.1:p.Thr287Met
NM_020988.3:c.986C>T MANE Select	NP_066268.1:p.Thr329Met