Canonical Allele Identifier: CA395955228

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388895T>A (hg19) ; chr16:g.56354983T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354983T>A , CM000678.2:g.56354983T>A	GRCh38
NC_000016.9:g.56388895T>A , CM000678.1:g.56388895T>A	GRCh37
NC_000016.8:g.54946396T>A	NCBI36
NG_042800.1:g.168645T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.995T>A MANE Select	ENSP00000262493.6:p.Ile332Asn
ENST00000562316.6:c.545-1120T>A	ENSP00000457238.2:n.545-1120T>A
ENST00000564727.2:c.299T>A	ENSP00000454971.2:p.Ile100Asn
ENST00000568375.2:c.233T>A
ENST00000638210.1:n.1295T>A
ENST00000638705.1:c.995T>A	ENSP00000491223.1:p.Ile332Asn
ENST00000638836.1:n.905T>A
ENST00000639251.1:n.896T>A
ENST00000639268.1:c.630T>A
ENST00000639341.1:c.520T>A
ENST00000639770.1:c.1033T>A	ENSP00000491999.1:n.1033T>A
ENST00000640390.1:n.925T>A
ENST00000640469.1:c.359T>A	ENSP00000491875.1:p.Ile120Asn
ENST00000640560.1:n.771T>A
ENST00000640893.1:c.*393T>A	ENSP00000492677.1:n.*393T>A
ENST00000262493.10:c.995T>A	ENSP00000262493.6:p.Ile332Asn
ENST00000564727.1:c.215T>A	ENSP00000454971.1:p.Ile72Asn
ENST00000568375.1:n.233T>A
NM_020988.2:c.995T>A	NP_066268.1:p.Ile332Asn
XM_011523003.1:c.869T>A	XP_011521305.1:p.Ile290Asn
XM_011523003.3:c.869T>A	XP_011521305.1:p.Ile290Asn
NM_020988.3:c.995T>A MANE Select	NP_066268.1:p.Ile332Asn