Canonical Allele Identifier: CA395954633

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1333550
• ClinVar RCV Id: RCV001808238 ; RCV002246525
• dbSNP Id: rs2143699618
• MyVariant Identifiers: chr16:g.56385320C>T (hg19) ; chr16:g.56351408C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351408C>T , CM000678.2:g.56351408C>T	GRCh38
NC_000016.9:g.56385320C>T , CM000678.1:g.56385320C>T	GRCh37
NC_000016.8:g.54942821C>T	NCBI36
NG_042800.1:g.165070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.748C>T MANE Select	ENSP00000262493.6:p.Leu250Phe
ENST00000562316.6:c.415C>T	ENSP00000457238.2:p.Leu139Phe
ENST00000564727.2:c.52C>T	ENSP00000454971.2:p.Leu18Phe
ENST00000568375.2:c.116-3458C>T
ENST00000638185.1:n.963C>T
ENST00000638210.1:n.1048C>T
ENST00000638705.1:c.748C>T	ENSP00000491223.1:p.Leu250Phe
ENST00000638836.1:n.658C>T
ENST00000639055.1:n.1469C>T
ENST00000639251.1:n.649C>T
ENST00000639268.1:c.383C>T
ENST00000639341.1:c.273C>T
ENST00000639770.1:c.786C>T	ENSP00000491999.1:n.786C>T
ENST00000640390.1:n.678C>T
ENST00000640469.1:c.112C>T	ENSP00000491875.1:p.Leu38Phe
ENST00000640560.1:n.524C>T
ENST00000640893.1:c.*146C>T	ENSP00000492677.1:n.*146C>T
ENST00000262493.10:c.748C>T	ENSP00000262493.6:p.Leu250Phe
ENST00000568375.1:n.116-3458C>T
NM_020988.2:c.748C>T	NP_066268.1:p.Leu250Phe
XM_011523003.1:c.622C>T	XP_011521305.1:p.Leu208Phe
XM_011523003.3:c.622C>T	XP_011521305.1:p.Leu208Phe
NM_020988.3:c.748C>T MANE Select	NP_066268.1:p.Leu250Phe