Canonical Allele Identifier: CA395952219

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370683T>C (hg19) ; chr16:g.56336771T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336771T>C , CM000678.2:g.56336771T>C	GRCh38
NC_000016.9:g.56370683T>C , CM000678.1:g.56370683T>C	GRCh37
NC_000016.8:g.54928184T>C	NCBI36
NG_042800.1:g.150433T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.634T>C	ENSP00000262494.7:p.Trp212Arg
ENST00000262493.12:c.634T>C MANE Select	ENSP00000262493.6:p.Trp212Arg
ENST00000262494.12:c.634T>C	ENSP00000262494.7:p.Trp212Arg
ENST00000562316.6:c.301T>C	ENSP00000457238.2:p.Trp101Arg
ENST00000568375.2:c.26T>C
ENST00000638185.1:n.849T>C
ENST00000638210.1:n.934T>C
ENST00000638705.1:c.634T>C	ENSP00000491223.1:p.Trp212Arg
ENST00000638836.1:n.544T>C
ENST00000639055.1:n.1355T>C
ENST00000639251.1:n.535T>C
ENST00000639268.1:c.269T>C
ENST00000639341.1:c.159T>C
ENST00000639770.1:c.672T>C	ENSP00000491999.1:n.672T>C
ENST00000640390.1:n.564T>C
ENST00000640560.1:n.410T>C
ENST00000640893.1:c.*32T>C	ENSP00000492677.1:n.*32T>C
ENST00000262493.10:c.634T>C	ENSP00000262493.6:p.Trp212Arg
ENST00000262494.11:c.634T>C	ENSP00000262494.7:p.Trp212Arg
ENST00000568375.1:n.26T>C
NM_020988.2:c.634T>C	NP_066268.1:p.Trp212Arg
NM_138736.2:c.634T>C	NP_620073.2:p.Trp212Arg
XM_011523003.1:c.508T>C	XP_011521305.1:p.Trp170Arg
XM_011523003.3:c.508T>C	XP_011521305.1:p.Trp170Arg
NM_020988.3:c.634T>C MANE Select	NP_066268.1:p.Trp212Arg
NM_138736.3:c.634T>C	NP_620073.2:p.Trp212Arg