Canonical Allele Identifier: CA395954773

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385378T>G (hg19) ; chr16:g.56351466T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351466T>G , CM000678.2:g.56351466T>G	GRCh38
NC_000016.9:g.56385378T>G , CM000678.1:g.56385378T>G	GRCh37
NC_000016.8:g.54942879T>G	NCBI36
NG_042800.1:g.165128T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.806T>G MANE Select	ENSP00000262493.6:p.Leu269Arg
ENST00000562316.6:c.473T>G	ENSP00000457238.2:p.Leu158Arg
ENST00000564727.2:c.110T>G	ENSP00000454971.2:p.Leu37Arg
ENST00000568375.2:c.116-3400T>G
ENST00000638185.1:n.1021T>G
ENST00000638210.1:n.1106T>G
ENST00000638705.1:c.806T>G	ENSP00000491223.1:p.Leu269Arg
ENST00000638836.1:n.716T>G
ENST00000639055.1:n.1527T>G
ENST00000639251.1:n.707T>G
ENST00000639268.1:c.441T>G
ENST00000639341.1:c.331T>G
ENST00000639770.1:c.844T>G	ENSP00000491999.1:n.844T>G
ENST00000640390.1:n.736T>G
ENST00000640469.1:c.170T>G	ENSP00000491875.1:p.Leu57Arg
ENST00000640560.1:n.582T>G
ENST00000640893.1:c.*204T>G	ENSP00000492677.1:n.*204T>G
ENST00000262493.10:c.806T>G	ENSP00000262493.6:p.Leu269Arg
ENST00000564727.1:c.26T>G	ENSP00000454971.1:p.Leu9Arg
ENST00000568375.1:n.116-3400T>G
NM_020988.2:c.806T>G	NP_066268.1:p.Leu269Arg
XM_011523003.1:c.680T>G	XP_011521305.1:p.Leu227Arg
XM_011523003.3:c.680T>G	XP_011521305.1:p.Leu227Arg
NM_020988.3:c.806T>G MANE Select	NP_066268.1:p.Leu269Arg