Canonical Allele Identifier: CA395952264

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1678350
• ClinVar RCV Id: RCV002224941
• dbSNP Id: rs2143664985
• MyVariant Identifiers: chr16:g.56370700G>C (hg19) ; chr16:g.56336788G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336788G>C , CM000678.2:g.56336788G>C	GRCh38
NC_000016.9:g.56370700G>C , CM000678.1:g.56370700G>C	GRCh37
NC_000016.8:g.54928201G>C	NCBI36
NG_042800.1:g.150450G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.651G>C	ENSP00000262494.7:p.Glu217Asp
ENST00000262493.12:c.651G>C MANE Select	ENSP00000262493.6:p.Glu217Asp
ENST00000262494.12:c.651G>C	ENSP00000262494.7:p.Glu217Asp
ENST00000562316.6:c.318G>C	ENSP00000457238.2:p.Glu106Asp
ENST00000568375.2:c.43G>C
ENST00000638185.1:n.866G>C
ENST00000638210.1:n.951G>C
ENST00000638705.1:c.651G>C	ENSP00000491223.1:p.Glu217Asp
ENST00000638836.1:n.561G>C
ENST00000639055.1:n.1372G>C
ENST00000639251.1:n.552G>C
ENST00000639268.1:c.286G>C
ENST00000639341.1:c.176G>C
ENST00000639770.1:c.689G>C	ENSP00000491999.1:n.689G>C
ENST00000640390.1:n.581G>C
ENST00000640469.1:c.15G>C	ENSP00000491875.1:p.Glu5Asp
ENST00000640560.1:n.427G>C
ENST00000640893.1:c.*49G>C	ENSP00000492677.1:n.*49G>C
ENST00000262493.10:c.651G>C	ENSP00000262493.6:p.Glu217Asp
ENST00000262494.11:c.651G>C	ENSP00000262494.7:p.Glu217Asp
ENST00000568375.1:n.43G>C
NM_020988.2:c.651G>C	NP_066268.1:p.Glu217Asp
NM_138736.2:c.651G>C	NP_620073.2:p.Glu217Asp
XM_011523003.1:c.525G>C	XP_011521305.1:p.Glu175Asp
XM_011523003.3:c.525G>C	XP_011521305.1:p.Glu175Asp
NM_020988.3:c.651G>C MANE Select	NP_066268.1:p.Glu217Asp
NM_138736.3:c.651G>C	NP_620073.2:p.Glu217Asp