Canonical Allele Identifier: CA395952354

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370741A>C (hg19) ; chr16:g.56336829A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336829A>C , CM000678.2:g.56336829A>C	GRCh38
NC_000016.9:g.56370741A>C , CM000678.1:g.56370741A>C	GRCh37
NC_000016.8:g.54928242A>C	NCBI36
NG_042800.1:g.150491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.692A>C	ENSP00000262494.7:p.Tyr231Ser
ENST00000262493.12:c.692A>C MANE Select	ENSP00000262493.6:p.Tyr231Ser
ENST00000262494.12:c.692A>C	ENSP00000262494.7:p.Tyr231Ser
ENST00000562316.6:c.359A>C	ENSP00000457238.2:p.Tyr120Ser
ENST00000568375.2:c.84A>C
ENST00000638185.1:n.907A>C
ENST00000638210.1:n.992A>C
ENST00000638705.1:c.692A>C	ENSP00000491223.1:p.Tyr231Ser
ENST00000638836.1:n.602A>C
ENST00000639055.1:n.1413A>C
ENST00000639251.1:n.593A>C
ENST00000639268.1:c.327A>C
ENST00000639341.1:c.217A>C
ENST00000639770.1:c.730A>C	ENSP00000491999.1:n.730A>C
ENST00000640390.1:n.622A>C
ENST00000640469.1:c.56A>C	ENSP00000491875.1:p.Tyr19Ser
ENST00000640560.1:n.468A>C
ENST00000640893.1:c.*90A>C	ENSP00000492677.1:n.*90A>C
ENST00000262493.10:c.692A>C	ENSP00000262493.6:p.Tyr231Ser
ENST00000262494.11:c.692A>C	ENSP00000262494.7:p.Tyr231Ser
ENST00000568375.1:n.84A>C
NM_020988.2:c.692A>C	NP_066268.1:p.Tyr231Ser
NM_138736.2:c.692A>C	NP_620073.2:p.Tyr231Ser
XM_011523003.1:c.566A>C	XP_011521305.1:p.Tyr189Ser
XM_011523003.3:c.566A>C	XP_011521305.1:p.Tyr189Ser
NM_020988.3:c.692A>C MANE Select	NP_066268.1:p.Tyr231Ser
NM_138736.3:c.692A>C	NP_620073.2:p.Tyr231Ser