Canonical Allele Identifier: CA395954890

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 851622
• ClinVar RCV Id: RCV001056053 ; RCV002482009
• dbSNP Id: rs1386785579
• MyVariant Identifiers: chr16:g.56385428A>T (hg19) ; chr16:g.56351516A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351516A>T , CM000678.2:g.56351516A>T	GRCh38
NC_000016.9:g.56385428A>T , CM000678.1:g.56385428A>T	GRCh37
NC_000016.8:g.54942929A>T	NCBI36
NG_042800.1:g.165178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.856A>T MANE Select	ENSP00000262493.6:p.Ile286Phe
ENST00000562316.6:c.523A>T	ENSP00000457238.2:p.Ile175Phe
ENST00000564727.2:c.160A>T	ENSP00000454971.2:p.Ile54Phe
ENST00000568375.2:c.116-3350A>T
ENST00000638185.1:n.1071A>T
ENST00000638210.1:n.1156A>T
ENST00000638705.1:c.856A>T	ENSP00000491223.1:p.Ile286Phe
ENST00000638836.1:n.766A>T
ENST00000639055.1:n.1577A>T
ENST00000639251.1:n.757A>T
ENST00000639268.1:c.491A>T
ENST00000639341.1:c.381A>T
ENST00000639770.1:c.894A>T	ENSP00000491999.1:n.894A>T
ENST00000640390.1:n.786A>T
ENST00000640469.1:c.220A>T	ENSP00000491875.1:p.Ile74Phe
ENST00000640560.1:n.632A>T
ENST00000640893.1:c.*254A>T	ENSP00000492677.1:n.*254A>T
ENST00000262493.10:c.856A>T	ENSP00000262493.6:p.Ile286Phe
ENST00000564727.1:c.76A>T	ENSP00000454971.1:p.Ile26Phe
ENST00000568375.1:n.116-3350A>T
NM_020988.2:c.856A>T	NP_066268.1:p.Ile286Phe
XM_011523003.1:c.730A>T	XP_011521305.1:p.Ile244Phe
XM_011523003.3:c.730A>T	XP_011521305.1:p.Ile244Phe
NM_020988.3:c.856A>T MANE Select	NP_066268.1:p.Ile286Phe