Canonical Allele Identifier: CA395952306

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370719T>C (hg19) ; chr16:g.56336807T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336807T>C , CM000678.2:g.56336807T>C	GRCh38
NC_000016.9:g.56370719T>C , CM000678.1:g.56370719T>C	GRCh37
NC_000016.8:g.54928220T>C	NCBI36
NG_042800.1:g.150469T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.670T>C	ENSP00000262494.7:p.Phe224Leu
ENST00000262493.12:c.670T>C MANE Select	ENSP00000262493.6:p.Phe224Leu
ENST00000262494.12:c.670T>C	ENSP00000262494.7:p.Phe224Leu
ENST00000562316.6:c.337T>C	ENSP00000457238.2:p.Phe113Leu
ENST00000568375.2:c.62T>C
ENST00000638185.1:n.885T>C
ENST00000638210.1:n.970T>C
ENST00000638705.1:c.670T>C	ENSP00000491223.1:p.Phe224Leu
ENST00000638836.1:n.580T>C
ENST00000639055.1:n.1391T>C
ENST00000639251.1:n.571T>C
ENST00000639268.1:c.305T>C
ENST00000639341.1:c.195T>C
ENST00000639770.1:c.708T>C	ENSP00000491999.1:n.708T>C
ENST00000640390.1:n.600T>C
ENST00000640469.1:c.34T>C	ENSP00000491875.1:p.Phe12Leu
ENST00000640560.1:n.446T>C
ENST00000640893.1:c.*68T>C	ENSP00000492677.1:n.*68T>C
ENST00000262493.10:c.670T>C	ENSP00000262493.6:p.Phe224Leu
ENST00000262494.11:c.670T>C	ENSP00000262494.7:p.Phe224Leu
ENST00000568375.1:n.62T>C
NM_020988.2:c.670T>C	NP_066268.1:p.Phe224Leu
NM_138736.2:c.670T>C	NP_620073.2:p.Phe224Leu
XM_011523003.1:c.544T>C	XP_011521305.1:p.Phe182Leu
XM_011523003.3:c.544T>C	XP_011521305.1:p.Phe182Leu
NM_020988.3:c.670T>C MANE Select	NP_066268.1:p.Phe224Leu
NM_138736.3:c.670T>C	NP_620073.2:p.Phe224Leu