Canonical Allele Identifier: CA395952342

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370735G>C (hg19) ; chr16:g.56336823G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336823G>C , CM000678.2:g.56336823G>C	GRCh38
NC_000016.9:g.56370735G>C , CM000678.1:g.56370735G>C	GRCh37
NC_000016.8:g.54928236G>C	NCBI36
NG_042800.1:g.150485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.686G>C	ENSP00000262494.7:p.Ser229Thr
ENST00000262493.12:c.686G>C MANE Select	ENSP00000262493.6:p.Ser229Thr
ENST00000262494.12:c.686G>C	ENSP00000262494.7:p.Ser229Thr
ENST00000562316.6:c.353G>C	ENSP00000457238.2:p.Ser118Thr
ENST00000568375.2:c.78G>C
ENST00000638185.1:n.901G>C
ENST00000638210.1:n.986G>C
ENST00000638705.1:c.686G>C	ENSP00000491223.1:p.Ser229Thr
ENST00000638836.1:n.596G>C
ENST00000639055.1:n.1407G>C
ENST00000639251.1:n.587G>C
ENST00000639268.1:c.321G>C
ENST00000639341.1:c.211G>C
ENST00000639770.1:c.724G>C	ENSP00000491999.1:n.724G>C
ENST00000640390.1:n.616G>C
ENST00000640469.1:c.50G>C	ENSP00000491875.1:p.Ser17Thr
ENST00000640560.1:n.462G>C
ENST00000640893.1:c.*84G>C	ENSP00000492677.1:n.*84G>C
ENST00000262493.10:c.686G>C	ENSP00000262493.6:p.Ser229Thr
ENST00000262494.11:c.686G>C	ENSP00000262494.7:p.Ser229Thr
ENST00000568375.1:n.78G>C
NM_020988.2:c.686G>C	NP_066268.1:p.Ser229Thr
NM_138736.2:c.686G>C	NP_620073.2:p.Ser229Thr
XM_011523003.1:c.560G>C	XP_011521305.1:p.Ser187Thr
XM_011523003.3:c.560G>C	XP_011521305.1:p.Ser187Thr
NM_020988.3:c.686G>C MANE Select	NP_066268.1:p.Ser229Thr
NM_138736.3:c.686G>C	NP_620073.2:p.Ser229Thr