Canonical Allele Identifier: CA395951726

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368750T>C (hg19) ; chr16:g.56334838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334838T>C , CM000678.2:g.56334838T>C	GRCh38
NC_000016.9:g.56368750T>C , CM000678.1:g.56368750T>C	GRCh37
NC_000016.8:g.54926251T>C	NCBI36
NG_042800.1:g.148500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.574T>C	ENSP00000262494.7:p.Phe192Leu
ENST00000262493.12:c.574T>C MANE Select	ENSP00000262493.6:p.Phe192Leu
ENST00000262494.12:c.574T>C	ENSP00000262494.7:p.Phe192Leu
ENST00000562316.6:c.241T>C	ENSP00000457238.2:p.Phe81Leu
ENST00000638185.1:n.789T>C
ENST00000638210.1:n.874T>C
ENST00000638705.1:c.574T>C	ENSP00000491223.1:p.Phe192Leu
ENST00000638836.1:n.484T>C
ENST00000639055.1:n.1295T>C
ENST00000639251.1:n.475T>C
ENST00000639268.1:c.229-1893T>C
ENST00000639341.1:c.99T>C
ENST00000639770.1:c.612T>C	ENSP00000491999.1:n.612T>C
ENST00000640390.1:n.504T>C
ENST00000640893.1:c.413T>C	ENSP00000492677.1:p.Ile138Thr
ENST00000262493.10:c.574T>C	ENSP00000262493.6:p.Phe192Leu
ENST00000262494.11:c.574T>C	ENSP00000262494.7:p.Phe192Leu
ENST00000562316.5:c.313T>C	ENSP00000457238.1:p.Phe105Leu
NM_020988.2:c.574T>C	NP_066268.1:p.Phe192Leu
NM_138736.2:c.574T>C	NP_620073.2:p.Phe192Leu
XM_011523003.1:c.448T>C	XP_011521305.1:p.Phe150Leu
XM_011523003.3:c.448T>C	XP_011521305.1:p.Phe150Leu
NM_020988.3:c.574T>C MANE Select	NP_066268.1:p.Phe192Leu
NM_138736.3:c.574T>C	NP_620073.2:p.Phe192Leu