Canonical Allele Identifier: CA395952296

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370714T>C (hg19) ; chr16:g.56336802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336802T>C , CM000678.2:g.56336802T>C	GRCh38
NC_000016.9:g.56370714T>C , CM000678.1:g.56370714T>C	GRCh37
NC_000016.8:g.54928215T>C	NCBI36
NG_042800.1:g.150464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.665T>C	ENSP00000262494.7:p.Ile222Thr
ENST00000262493.12:c.665T>C MANE Select	ENSP00000262493.6:p.Ile222Thr
ENST00000262494.12:c.665T>C	ENSP00000262494.7:p.Ile222Thr
ENST00000562316.6:c.332T>C	ENSP00000457238.2:p.Ile111Thr
ENST00000568375.2:c.57T>C
ENST00000638185.1:n.880T>C
ENST00000638210.1:n.965T>C
ENST00000638705.1:c.665T>C	ENSP00000491223.1:p.Ile222Thr
ENST00000638836.1:n.575T>C
ENST00000639055.1:n.1386T>C
ENST00000639251.1:n.566T>C
ENST00000639268.1:c.300T>C
ENST00000639341.1:c.190T>C
ENST00000639770.1:c.703T>C	ENSP00000491999.1:n.703T>C
ENST00000640390.1:n.595T>C
ENST00000640469.1:c.29T>C	ENSP00000491875.1:p.Ile10Thr
ENST00000640560.1:n.441T>C
ENST00000640893.1:c.*63T>C	ENSP00000492677.1:n.*63T>C
ENST00000262493.10:c.665T>C	ENSP00000262493.6:p.Ile222Thr
ENST00000262494.11:c.665T>C	ENSP00000262494.7:p.Ile222Thr
ENST00000568375.1:n.57T>C
NM_020988.2:c.665T>C	NP_066268.1:p.Ile222Thr
NM_138736.2:c.665T>C	NP_620073.2:p.Ile222Thr
XM_011523003.1:c.539T>C	XP_011521305.1:p.Ile180Thr
XM_011523003.3:c.539T>C	XP_011521305.1:p.Ile180Thr
NM_020988.3:c.665T>C MANE Select	NP_066268.1:p.Ile222Thr
NM_138736.3:c.665T>C	NP_620073.2:p.Ile222Thr