Canonical Allele Identifier: CA8063992

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1103299
• ClinVar RCV Id: RCV001426916
• dbSNP Id: rs377336410
• ExAC: 16:56385316 C / T
• gnomAD v2: 16-56385316-C-T
• gnomAD v3: 16-56351404-C-T
• gnomAD v4: 16-56351404-C-T
• MyVariant Identifiers: chr16:g.56385316C>T (hg19) ; chr16:g.56351404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351404C>T , CM000678.2:g.56351404C>T	GRCh38
NC_000016.9:g.56385316C>T , CM000678.1:g.56385316C>T	GRCh37
NC_000016.8:g.54942817C>T	NCBI36
NG_042800.1:g.165066C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.744C>T MANE Select	ENSP00000262493.6:p.Leu248=
ENST00000562316.6:c.411C>T	ENSP00000457238.2:p.Leu137=
ENST00000564727.2:c.48C>T	ENSP00000454971.2:p.Leu16=
ENST00000568375.2:c.116-3462C>T
ENST00000638185.1:n.959C>T
ENST00000638210.1:n.1044C>T
ENST00000638705.1:c.744C>T	ENSP00000491223.1:p.Leu248=
ENST00000638836.1:n.654C>T
ENST00000639055.1:n.1465C>T
ENST00000639251.1:n.645C>T
ENST00000639268.1:c.379C>T
ENST00000639341.1:c.269C>T
ENST00000639770.1:c.782C>T	ENSP00000491999.1:n.782C>T
ENST00000640390.1:n.674C>T
ENST00000640469.1:c.108C>T	ENSP00000491875.1:p.Leu36=
ENST00000640560.1:n.520C>T
ENST00000640893.1:c.*142C>T	ENSP00000492677.1:n.*142C>T
ENST00000262493.10:c.744C>T	ENSP00000262493.6:p.Leu248=
ENST00000568375.1:n.116-3462C>T
NM_020988.2:c.744C>T	NP_066268.1:p.Leu248=
XM_011523003.1:c.618C>T	XP_011521305.1:p.Leu206=
XM_011523003.3:c.618C>T	XP_011521305.1:p.Leu206=
NM_020988.3:c.744C>T MANE Select	NP_066268.1:p.Leu248=