Canonical Allele Identifier: CA395952152

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 1453190
• ClinVar RCV Id: RCV001994745
• dbSNP Id: rs2143664808
• MyVariant Identifiers: chr16:g.56370651A>T (hg19) ; chr16:g.56336739A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336739A>T , CM000678.2:g.56336739A>T	GRCh38
NC_000016.9:g.56370651A>T , CM000678.1:g.56370651A>T	GRCh37
NC_000016.8:g.54928152A>T	NCBI36
NG_042800.1:g.150401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.602A>T	ENSP00000262494.7:p.Asp201Val
ENST00000262493.12:c.602A>T MANE Select	ENSP00000262493.6:p.Asp201Val
ENST00000262494.12:c.602A>T	ENSP00000262494.7:p.Asp201Val
ENST00000562316.6:c.269A>T	ENSP00000457238.2:p.Asp90Val
ENST00000638185.1:n.817A>T
ENST00000638210.1:n.902A>T
ENST00000638705.1:c.602A>T	ENSP00000491223.1:p.Asp201Val
ENST00000638836.1:n.512A>T
ENST00000639055.1:n.1323A>T
ENST00000639251.1:n.503A>T
ENST00000639268.1:c.237A>T
ENST00000639341.1:c.127A>T
ENST00000639770.1:c.640A>T	ENSP00000491999.1:n.640A>T
ENST00000640390.1:n.532A>T
ENST00000640560.1:n.378A>T
ENST00000640893.1:c.441A>T	ENSP00000492677.1:p.Ter147Cys
ENST00000262493.10:c.602A>T	ENSP00000262493.6:p.Asp201Val
ENST00000262494.11:c.602A>T	ENSP00000262494.7:p.Asp201Val
NM_020988.2:c.602A>T	NP_066268.1:p.Asp201Val
NM_138736.2:c.602A>T	NP_620073.2:p.Asp201Val
XM_011523003.1:c.476A>T	XP_011521305.1:p.Asp159Val
XM_011523003.3:c.476A>T	XP_011521305.1:p.Asp159Val
NM_020988.3:c.602A>T MANE Select	NP_066268.1:p.Asp201Val
NM_138736.3:c.602A>T	NP_620073.2:p.Asp201Val