Canonical Allele Identifier: CA395955351

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388928T>A (hg19) ; chr16:g.56355016T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56355016T>A , CM000678.2:g.56355016T>A	GRCh38
NC_000016.9:g.56388928T>A , CM000678.1:g.56388928T>A	GRCh37
NC_000016.8:g.54946429T>A	NCBI36
NG_042800.1:g.168678T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1028T>A MANE Select	ENSP00000262493.6:p.Ile343Asn
ENST00000562316.6:c.545-1087T>A	ENSP00000457238.2:n.545-1087T>A
ENST00000564727.2:c.303+29T>A	ENSP00000454971.2:n.303+29T>A
ENST00000568375.2:c.266T>A
ENST00000638210.1:n.1328T>A
ENST00000638705.1:c.1028T>A	ENSP00000491223.1:p.Ile343Asn
ENST00000638836.1:n.938T>A
ENST00000639251.1:n.929T>A
ENST00000639268.1:c.663T>A
ENST00000639341.1:c.553T>A
ENST00000639770.1:c.1066T>A	ENSP00000491999.1:n.1066T>A
ENST00000640390.1:n.958T>A
ENST00000640469.1:c.392T>A	ENSP00000491875.1:p.Ile131Asn
ENST00000640560.1:n.804T>A
ENST00000640893.1:c.*426T>A	ENSP00000492677.1:n.*426T>A
ENST00000262493.10:c.1028T>A	ENSP00000262493.6:p.Ile343Asn
ENST00000564727.1:c.248T>A	ENSP00000454971.1:p.Ile83Asn
ENST00000568375.1:n.266T>A
NM_020988.2:c.1028T>A	NP_066268.1:p.Ile343Asn
XM_011523003.1:c.902T>A	XP_011521305.1:p.Ile301Asn
XM_011523003.3:c.902T>A	XP_011521305.1:p.Ile301Asn
NM_020988.3:c.1028T>A MANE Select	NP_066268.1:p.Ile343Asn