Canonical Allele Identifier: CA395952351

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370740T>C (hg19) ; chr16:g.56336828T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336828T>C , CM000678.2:g.56336828T>C	GRCh38
NC_000016.9:g.56370740T>C , CM000678.1:g.56370740T>C	GRCh37
NC_000016.8:g.54928241T>C	NCBI36
NG_042800.1:g.150490T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.691T>C	ENSP00000262494.7:p.Tyr231His
ENST00000262493.12:c.691T>C MANE Select	ENSP00000262493.6:p.Tyr231His
ENST00000262494.12:c.691T>C	ENSP00000262494.7:p.Tyr231His
ENST00000562316.6:c.358T>C	ENSP00000457238.2:p.Tyr120His
ENST00000568375.2:c.83T>C
ENST00000638185.1:n.906T>C
ENST00000638210.1:n.991T>C
ENST00000638705.1:c.691T>C	ENSP00000491223.1:p.Tyr231His
ENST00000638836.1:n.601T>C
ENST00000639055.1:n.1412T>C
ENST00000639251.1:n.592T>C
ENST00000639268.1:c.326T>C
ENST00000639341.1:c.216T>C
ENST00000639770.1:c.729T>C	ENSP00000491999.1:n.729T>C
ENST00000640390.1:n.621T>C
ENST00000640469.1:c.55T>C	ENSP00000491875.1:p.Tyr19His
ENST00000640560.1:n.467T>C
ENST00000640893.1:c.*89T>C	ENSP00000492677.1:n.*89T>C
ENST00000262493.10:c.691T>C	ENSP00000262493.6:p.Tyr231His
ENST00000262494.11:c.691T>C	ENSP00000262494.7:p.Tyr231His
ENST00000568375.1:n.83T>C
NM_020988.2:c.691T>C	NP_066268.1:p.Tyr231His
NM_138736.2:c.691T>C	NP_620073.2:p.Tyr231His
XM_011523003.1:c.565T>C	XP_011521305.1:p.Tyr189His
XM_011523003.3:c.565T>C	XP_011521305.1:p.Tyr189His
NM_020988.3:c.691T>C MANE Select	NP_066268.1:p.Tyr231His
NM_138736.3:c.691T>C	NP_620073.2:p.Tyr231His