Canonical Allele Identifier: CA395955025

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388811T>C (hg19) ; chr16:g.56354899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354899T>C , CM000678.2:g.56354899T>C	GRCh38
NC_000016.9:g.56388811T>C , CM000678.1:g.56388811T>C	GRCh37
NC_000016.8:g.54946312T>C	NCBI36
NG_042800.1:g.168561T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.911T>C MANE Select	ENSP00000262493.6:p.Ile304Thr
ENST00000562316.6:c.545-1204T>C	ENSP00000457238.2:n.545-1204T>C
ENST00000564727.2:c.215T>C	ENSP00000454971.2:p.Ile72Thr
ENST00000568375.2:c.149T>C
ENST00000638185.1:n.1126T>C
ENST00000638210.1:n.1211T>C
ENST00000638705.1:c.911T>C	ENSP00000491223.1:p.Ile304Thr
ENST00000638836.1:n.821T>C
ENST00000639055.1:n.1632T>C
ENST00000639251.1:n.812T>C
ENST00000639268.1:c.546T>C
ENST00000639341.1:c.436T>C
ENST00000639770.1:c.949T>C	ENSP00000491999.1:n.949T>C
ENST00000640390.1:n.841T>C
ENST00000640469.1:c.275T>C	ENSP00000491875.1:p.Ile92Thr
ENST00000640560.1:n.687T>C
ENST00000640893.1:c.*309T>C	ENSP00000492677.1:n.*309T>C
ENST00000262493.10:c.911T>C	ENSP00000262493.6:p.Ile304Thr
ENST00000564727.1:c.131T>C	ENSP00000454971.1:p.Ile44Thr
ENST00000568375.1:n.149T>C
NM_020988.2:c.911T>C	NP_066268.1:p.Ile304Thr
XM_011523003.1:c.785T>C	XP_011521305.1:p.Ile262Thr
XM_011523003.3:c.785T>C	XP_011521305.1:p.Ile262Thr
NM_020988.3:c.911T>C MANE Select	NP_066268.1:p.Ile304Thr