Canonical Allele Identifier: CA395952210

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 2759489
• ClinVar RCV Id: RCV003590213
• MyVariant Identifiers: chr16:g.56370680A>C (hg19) ; chr16:g.56336768A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336768A>C , CM000678.2:g.56336768A>C	GRCh38
NC_000016.9:g.56370680A>C , CM000678.1:g.56370680A>C	GRCh37
NC_000016.8:g.54928181A>C	NCBI36
NG_042800.1:g.150430A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.631A>C	ENSP00000262494.7:p.Lys211Gln
ENST00000262493.12:c.631A>C MANE Select	ENSP00000262493.6:p.Lys211Gln
ENST00000262494.12:c.631A>C	ENSP00000262494.7:p.Lys211Gln
ENST00000562316.6:c.298A>C	ENSP00000457238.2:p.Lys100Gln
ENST00000568375.2:c.23A>C
ENST00000638185.1:n.846A>C
ENST00000638210.1:n.931A>C
ENST00000638705.1:c.631A>C	ENSP00000491223.1:p.Lys211Gln
ENST00000638836.1:n.541A>C
ENST00000639055.1:n.1352A>C
ENST00000639251.1:n.532A>C
ENST00000639268.1:c.266A>C
ENST00000639341.1:c.156A>C
ENST00000639770.1:c.669A>C	ENSP00000491999.1:n.669A>C
ENST00000640390.1:n.561A>C
ENST00000640560.1:n.407A>C
ENST00000640893.1:c.*29A>C	ENSP00000492677.1:n.*29A>C
ENST00000262493.10:c.631A>C	ENSP00000262493.6:p.Lys211Gln
ENST00000262494.11:c.631A>C	ENSP00000262494.7:p.Lys211Gln
ENST00000568375.1:n.23A>C
NM_020988.2:c.631A>C	NP_066268.1:p.Lys211Gln
NM_138736.2:c.631A>C	NP_620073.2:p.Lys211Gln
XM_011523003.1:c.505A>C	XP_011521305.1:p.Lys169Gln
XM_011523003.3:c.505A>C	XP_011521305.1:p.Lys169Gln
NM_020988.3:c.631A>C MANE Select	NP_066268.1:p.Lys211Gln
NM_138736.3:c.631A>C	NP_620073.2:p.Lys211Gln