Canonical Allele Identifier: CA395951604

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368721C>A (hg19) ; chr16:g.56334809C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334809C>A , CM000678.2:g.56334809C>A	GRCh38
NC_000016.9:g.56368721C>A , CM000678.1:g.56368721C>A	GRCh37
NC_000016.8:g.54926222C>A	NCBI36
NG_042800.1:g.148471C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.545C>A	ENSP00000262494.7:p.Thr182Asn
ENST00000262493.12:c.545C>A MANE Select	ENSP00000262493.6:p.Thr182Asn
ENST00000262494.12:c.545C>A	ENSP00000262494.7:p.Thr182Asn
ENST00000562316.6:c.212C>A	ENSP00000457238.2:p.Thr71Asn
ENST00000638185.1:n.760C>A
ENST00000638210.1:n.845C>A
ENST00000638705.1:c.545C>A	ENSP00000491223.1:p.Thr182Asn
ENST00000638836.1:n.455C>A
ENST00000639055.1:n.1266C>A
ENST00000639251.1:n.446C>A
ENST00000639268.1:c.229-1922C>A
ENST00000639341.1:c.70C>A
ENST00000639770.1:c.583C>A	ENSP00000491999.1:n.583C>A
ENST00000640390.1:n.475C>A
ENST00000640893.1:c.384C>A	ENSP00000492677.1:p.Asn128Lys
ENST00000262493.10:c.545C>A	ENSP00000262493.6:p.Thr182Asn
ENST00000262494.11:c.545C>A	ENSP00000262494.7:p.Thr182Asn
ENST00000562316.5:c.284C>A	ENSP00000457238.1:p.Thr95Asn
NM_020988.2:c.545C>A	NP_066268.1:p.Thr182Asn
NM_138736.2:c.545C>A	NP_620073.2:p.Thr182Asn
XM_011523003.1:c.419C>A	XP_011521305.1:p.Thr140Asn
XM_011523003.3:c.419C>A	XP_011521305.1:p.Thr140Asn
NM_020988.3:c.545C>A MANE Select	NP_066268.1:p.Thr182Asn
NM_138736.3:c.545C>A	NP_620073.2:p.Thr182Asn