Canonical Allele Identifier: CA395954885

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385426C>A (hg19) ; chr16:g.56351514C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351514C>A , CM000678.2:g.56351514C>A	GRCh38
NC_000016.9:g.56385426C>A , CM000678.1:g.56385426C>A	GRCh37
NC_000016.8:g.54942927C>A	NCBI36
NG_042800.1:g.165176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.854C>A MANE Select	ENSP00000262493.6:p.Thr285Asn
ENST00000562316.6:c.521C>A	ENSP00000457238.2:p.Thr174Asn
ENST00000564727.2:c.158C>A	ENSP00000454971.2:p.Thr53Asn
ENST00000568375.2:c.116-3352C>A
ENST00000638185.1:n.1069C>A
ENST00000638210.1:n.1154C>A
ENST00000638705.1:c.854C>A	ENSP00000491223.1:p.Thr285Asn
ENST00000638836.1:n.764C>A
ENST00000639055.1:n.1575C>A
ENST00000639251.1:n.755C>A
ENST00000639268.1:c.489C>A
ENST00000639341.1:c.379C>A
ENST00000639770.1:c.892C>A	ENSP00000491999.1:n.892C>A
ENST00000640390.1:n.784C>A
ENST00000640469.1:c.218C>A	ENSP00000491875.1:p.Thr73Asn
ENST00000640560.1:n.630C>A
ENST00000640893.1:c.*252C>A	ENSP00000492677.1:n.*252C>A
ENST00000262493.10:c.854C>A	ENSP00000262493.6:p.Thr285Asn
ENST00000564727.1:c.74C>A	ENSP00000454971.1:p.Thr25Asn
ENST00000568375.1:n.116-3352C>A
NM_020988.2:c.854C>A	NP_066268.1:p.Thr285Asn
XM_011523003.1:c.728C>A	XP_011521305.1:p.Thr243Asn
XM_011523003.3:c.728C>A	XP_011521305.1:p.Thr243Asn
NM_020988.3:c.854C>A MANE Select	NP_066268.1:p.Thr285Asn