Canonical Allele Identifier: CA395954780

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1012173
• ClinVar RCV Id: RCV001580369
• dbSNP Id: rs2143699686
• MyVariant Identifiers: chr16:g.56385382C>A (hg19) ; chr16:g.56351470C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351470C>A , CM000678.2:g.56351470C>A	GRCh38
NC_000016.9:g.56385382C>A , CM000678.1:g.56385382C>A	GRCh37
NC_000016.8:g.54942883C>A	NCBI36
NG_042800.1:g.165132C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.810C>A MANE Select	ENSP00000262493.6:p.Asn270Lys
ENST00000562316.6:c.477C>A	ENSP00000457238.2:p.Asn159Lys
ENST00000564727.2:c.114C>A	ENSP00000454971.2:p.Asn38Lys
ENST00000568375.2:c.116-3396C>A
ENST00000638185.1:n.1025C>A
ENST00000638210.1:n.1110C>A
ENST00000638705.1:c.810C>A	ENSP00000491223.1:p.Asn270Lys
ENST00000638836.1:n.720C>A
ENST00000639055.1:n.1531C>A
ENST00000639251.1:n.711C>A
ENST00000639268.1:c.445C>A
ENST00000639341.1:c.335C>A
ENST00000639770.1:c.848C>A	ENSP00000491999.1:n.848C>A
ENST00000640390.1:n.740C>A
ENST00000640469.1:c.174C>A	ENSP00000491875.1:p.Asn58Lys
ENST00000640560.1:n.586C>A
ENST00000640893.1:c.*208C>A	ENSP00000492677.1:n.*208C>A
ENST00000262493.10:c.810C>A	ENSP00000262493.6:p.Asn270Lys
ENST00000564727.1:c.30C>A	ENSP00000454971.1:p.Asn10Lys
ENST00000568375.1:n.116-3396C>A
NM_020988.2:c.810C>A	NP_066268.1:p.Asn270Lys
XM_011523003.1:c.684C>A	XP_011521305.1:p.Asn228Lys
XM_011523003.3:c.684C>A	XP_011521305.1:p.Asn228Lys
NM_020988.3:c.810C>A MANE Select	NP_066268.1:p.Asn270Lys