Canonical Allele Identifier: CA395954574

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2078009
• ClinVar RCV Id: RCV002993556
• gnomAD v4: 16-56351387-C-T
• COSMIC: COSM1582316
• MyVariant Identifiers: chr16:g.56385299C>T (hg19) ; chr16:g.56351387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351387C>T , CM000678.2:g.56351387C>T	GRCh38
NC_000016.9:g.56385299C>T , CM000678.1:g.56385299C>T	GRCh37
NC_000016.8:g.54942800C>T	NCBI36
NG_042800.1:g.165049C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.727C>T MANE Select	ENSP00000262493.6:p.Arg243Cys
ENST00000562316.6:c.394C>T	ENSP00000457238.2:p.Arg132Cys
ENST00000564727.2:c.31C>T	ENSP00000454971.2:p.Arg11Cys
ENST00000568375.2:c.116-3479C>T
ENST00000638185.1:n.942C>T
ENST00000638210.1:n.1027C>T
ENST00000638705.1:c.727C>T	ENSP00000491223.1:p.Arg243Cys
ENST00000638836.1:n.637C>T
ENST00000639055.1:n.1448C>T
ENST00000639251.1:n.628C>T
ENST00000639268.1:c.362C>T
ENST00000639341.1:c.252C>T
ENST00000639770.1:c.765C>T	ENSP00000491999.1:n.765C>T
ENST00000640390.1:n.657C>T
ENST00000640469.1:c.91C>T	ENSP00000491875.1:p.Arg31Cys
ENST00000640560.1:n.503C>T
ENST00000640893.1:c.*125C>T	ENSP00000492677.1:n.*125C>T
ENST00000262493.10:c.727C>T	ENSP00000262493.6:p.Arg243Cys
ENST00000568375.1:n.116-3479C>T
NM_020988.2:c.727C>T	NP_066268.1:p.Arg243Cys
XM_011523003.1:c.601C>T	XP_011521305.1:p.Arg201Cys
XM_011523003.3:c.601C>T	XP_011521305.1:p.Arg201Cys
NM_020988.3:c.727C>T MANE Select	NP_066268.1:p.Arg243Cys