Canonical Allele Identifier: CA395955114

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388849A>C (hg19) ; chr16:g.56354937A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354937A>C , CM000678.2:g.56354937A>C	GRCh38
NC_000016.9:g.56388849A>C , CM000678.1:g.56388849A>C	GRCh37
NC_000016.8:g.54946350A>C	NCBI36
NG_042800.1:g.168599A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.949A>C MANE Select	ENSP00000262493.6:p.Lys317Gln
ENST00000562316.6:c.545-1166A>C	ENSP00000457238.2:n.545-1166A>C
ENST00000564727.2:c.253A>C	ENSP00000454971.2:p.Lys85Gln
ENST00000568375.2:c.187A>C
ENST00000638210.1:n.1249A>C
ENST00000638705.1:c.949A>C	ENSP00000491223.1:p.Lys317Gln
ENST00000638836.1:n.859A>C
ENST00000639055.1:n.1670A>C
ENST00000639251.1:n.850A>C
ENST00000639268.1:c.584A>C
ENST00000639341.1:c.474A>C
ENST00000639770.1:c.987A>C	ENSP00000491999.1:n.987A>C
ENST00000640390.1:n.879A>C
ENST00000640469.1:c.313A>C	ENSP00000491875.1:p.Lys105Gln
ENST00000640560.1:n.725A>C
ENST00000640893.1:c.*347A>C	ENSP00000492677.1:n.*347A>C
ENST00000262493.10:c.949A>C	ENSP00000262493.6:p.Lys317Gln
ENST00000564727.1:c.169A>C	ENSP00000454971.1:p.Lys57Gln
ENST00000568375.1:n.187A>C
NM_020988.2:c.949A>C	NP_066268.1:p.Lys317Gln
XM_011523003.1:c.823A>C	XP_011521305.1:p.Lys275Gln
XM_011523003.3:c.823A>C	XP_011521305.1:p.Lys275Gln
NM_020988.3:c.949A>C MANE Select	NP_066268.1:p.Lys317Gln