Canonical Allele Identifier: CA495573665

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370751G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336839G>C , CM000678.2:g.56336839G>C	GRCh38
NC_000016.9:g.56370751G>C , CM000678.1:g.56370751G>C	GRCh37
NC_000016.8:g.54928252G>C	NCBI36
NG_042800.1:g.150501G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.702G>C	ENSP00000262494.7:p.Val234=
ENST00000262493.12:c.702G>C MANE Select	ENSP00000262493.6:p.Val234=
ENST00000262494.12:c.702G>C	ENSP00000262494.7:p.Val234=
ENST00000562316.6:c.369G>C	ENSP00000457238.2:p.Val123=
ENST00000564727.2:c.6G>C	ENSP00000454971.2:p.Val2=
ENST00000568375.2:c.94G>C
ENST00000638185.1:n.917G>C
ENST00000638210.1:n.1002G>C
ENST00000638705.1:c.702G>C	ENSP00000491223.1:p.Val234=
ENST00000638836.1:n.612G>C
ENST00000639055.1:n.1423G>C
ENST00000639251.1:n.603G>C
ENST00000639268.1:c.337G>C
ENST00000639341.1:c.227G>C
ENST00000639770.1:c.740G>C	ENSP00000491999.1:n.740G>C
ENST00000640390.1:n.632G>C
ENST00000640469.1:c.66G>C	ENSP00000491875.1:p.Val22=
ENST00000640560.1:n.478G>C
ENST00000640893.1:c.*100G>C	ENSP00000492677.1:n.*100G>C
ENST00000262493.10:c.702G>C	ENSP00000262493.6:p.Val234=
ENST00000262494.11:c.702G>C	ENSP00000262494.7:p.Val234=
ENST00000568375.1:n.94G>C
NM_020988.2:c.702G>C	NP_066268.1:p.Val234=
NM_138736.2:c.702G>C	NP_620073.2:p.Val234=
XM_011523003.1:c.576G>C	XP_011521305.1:p.Val192=
XM_011523003.3:c.576G>C	XP_011521305.1:p.Val192=
NM_020988.3:c.702G>C MANE Select	NP_066268.1:p.Val234=
NM_138736.3:c.702G>C	NP_620073.2:p.Val234=