Canonical Allele Identifier: CA395954878

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 496687
• ClinVar RCV Id: RCV000590935
• dbSNP Id: rs1555508316
• MyVariant Identifiers: chr16:g.56385423T>C (hg19) ; chr16:g.56351511T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351511T>C , CM000678.2:g.56351511T>C	GRCh38
NC_000016.9:g.56385423T>C , CM000678.1:g.56385423T>C	GRCh37
NC_000016.8:g.54942924T>C	NCBI36
NG_042800.1:g.165173T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.851T>C MANE Select	ENSP00000262493.6:p.Leu284Ser
ENST00000562316.6:c.518T>C	ENSP00000457238.2:p.Leu173Ser
ENST00000564727.2:c.155T>C	ENSP00000454971.2:p.Leu52Ser
ENST00000568375.2:c.116-3355T>C
ENST00000638185.1:n.1066T>C
ENST00000638210.1:n.1151T>C
ENST00000638705.1:c.851T>C	ENSP00000491223.1:p.Leu284Ser
ENST00000638836.1:n.761T>C
ENST00000639055.1:n.1572T>C
ENST00000639251.1:n.752T>C
ENST00000639268.1:c.486T>C
ENST00000639341.1:c.376T>C
ENST00000639770.1:c.889T>C	ENSP00000491999.1:n.889T>C
ENST00000640390.1:n.781T>C
ENST00000640469.1:c.215T>C	ENSP00000491875.1:p.Leu72Ser
ENST00000640560.1:n.627T>C
ENST00000640893.1:c.*249T>C	ENSP00000492677.1:n.*249T>C
ENST00000262493.10:c.851T>C	ENSP00000262493.6:p.Leu284Ser
ENST00000564727.1:c.71T>C	ENSP00000454971.1:p.Leu24Ser
ENST00000568375.1:n.116-3355T>C
NM_020988.2:c.851T>C	NP_066268.1:p.Leu284Ser
XM_011523003.1:c.725T>C	XP_011521305.1:p.Leu242Ser
XM_011523003.3:c.725T>C	XP_011521305.1:p.Leu242Ser
NM_020988.3:c.851T>C MANE Select	NP_066268.1:p.Leu284Ser