Canonical Allele Identifier: CA395955318

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388919C>A (hg19) ; chr16:g.56355007C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355007C>A , CM000678.2:g.56355007C>A	GRCh38
NC_000016.9:g.56388919C>A , CM000678.1:g.56388919C>A	GRCh37
NC_000016.8:g.54946420C>A	NCBI36
NG_042800.1:g.168669C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1019C>A MANE Select	ENSP00000262493.6:p.Thr340Asn
ENST00000562316.6:c.545-1096C>A	ENSP00000457238.2:n.545-1096C>A
ENST00000564727.2:c.303+20C>A	ENSP00000454971.2:n.303+20C>A
ENST00000568375.2:c.257C>A
ENST00000638210.1:n.1319C>A
ENST00000638705.1:c.1019C>A	ENSP00000491223.1:p.Thr340Asn
ENST00000638836.1:n.929C>A
ENST00000639251.1:n.920C>A
ENST00000639268.1:c.654C>A
ENST00000639341.1:c.544C>A
ENST00000639770.1:c.1057C>A	ENSP00000491999.1:n.1057C>A
ENST00000640390.1:n.949C>A
ENST00000640469.1:c.383C>A	ENSP00000491875.1:p.Thr128Asn
ENST00000640560.1:n.795C>A
ENST00000640893.1:c.*417C>A	ENSP00000492677.1:n.*417C>A
ENST00000262493.10:c.1019C>A	ENSP00000262493.6:p.Thr340Asn
ENST00000564727.1:c.239C>A	ENSP00000454971.1:p.Thr80Asn
ENST00000568375.1:n.257C>A
NM_020988.2:c.1019C>A	NP_066268.1:p.Thr340Asn
XM_011523003.1:c.893C>A	XP_011521305.1:p.Thr298Asn
XM_011523003.3:c.893C>A	XP_011521305.1:p.Thr298Asn
NM_020988.3:c.1019C>A MANE Select	NP_066268.1:p.Thr340Asn