Canonical Allele Identifier: CA395955189

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388877C>T (hg19) ; chr16:g.56354965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354965C>T , CM000678.2:g.56354965C>T	GRCh38
NC_000016.9:g.56388877C>T , CM000678.1:g.56388877C>T	GRCh37
NC_000016.8:g.54946378C>T	NCBI36
NG_042800.1:g.168627C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.977C>T MANE Select	ENSP00000262493.6:p.Ala326Val
ENST00000562316.6:c.545-1138C>T	ENSP00000457238.2:n.545-1138C>T
ENST00000564727.2:c.281C>T	ENSP00000454971.2:p.Ala94Val
ENST00000568375.2:c.215C>T
ENST00000638210.1:n.1277C>T
ENST00000638705.1:c.977C>T	ENSP00000491223.1:p.Ala326Val
ENST00000638836.1:n.887C>T
ENST00000639251.1:n.878C>T
ENST00000639268.1:c.612C>T
ENST00000639341.1:c.502C>T
ENST00000639770.1:c.1015C>T	ENSP00000491999.1:n.1015C>T
ENST00000640390.1:n.907C>T
ENST00000640469.1:c.341C>T	ENSP00000491875.1:p.Ala114Val
ENST00000640560.1:n.753C>T
ENST00000640893.1:c.*375C>T	ENSP00000492677.1:n.*375C>T
ENST00000262493.10:c.977C>T	ENSP00000262493.6:p.Ala326Val
ENST00000564727.1:c.197C>T	ENSP00000454971.1:p.Ala66Val
ENST00000568375.1:n.215C>T
NM_020988.2:c.977C>T	NP_066268.1:p.Ala326Val
XM_011523003.1:c.851C>T	XP_011521305.1:p.Ala284Val
XM_011523003.3:c.851C>T	XP_011521305.1:p.Ala284Val
NM_020988.3:c.977C>T MANE Select	NP_066268.1:p.Ala326Val