Canonical Allele Identifier: CA395954695

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385345A>T (hg19) ; chr16:g.56351433A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351433A>T , CM000678.2:g.56351433A>T	GRCh38
NC_000016.9:g.56385345A>T , CM000678.1:g.56385345A>T	GRCh37
NC_000016.8:g.54942846A>T	NCBI36
NG_042800.1:g.165095A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.773A>T MANE Select	ENSP00000262493.6:p.Lys258Met
ENST00000562316.6:c.440A>T	ENSP00000457238.2:p.Lys147Met
ENST00000564727.2:c.77A>T	ENSP00000454971.2:p.Lys26Met
ENST00000568375.2:c.116-3433A>T
ENST00000638185.1:n.988A>T
ENST00000638210.1:n.1073A>T
ENST00000638705.1:c.773A>T	ENSP00000491223.1:p.Lys258Met
ENST00000638836.1:n.683A>T
ENST00000639055.1:n.1494A>T
ENST00000639251.1:n.674A>T
ENST00000639268.1:c.408A>T
ENST00000639341.1:c.298A>T
ENST00000639770.1:c.811A>T	ENSP00000491999.1:n.811A>T
ENST00000640390.1:n.703A>T
ENST00000640469.1:c.137A>T	ENSP00000491875.1:p.Lys46Met
ENST00000640560.1:n.549A>T
ENST00000640893.1:c.*171A>T	ENSP00000492677.1:n.*171A>T
ENST00000262493.10:c.773A>T	ENSP00000262493.6:p.Lys258Met
ENST00000568375.1:n.116-3433A>T
NM_020988.2:c.773A>T	NP_066268.1:p.Lys258Met
XM_011523003.1:c.647A>T	XP_011521305.1:p.Lys216Met
XM_011523003.3:c.647A>T	XP_011521305.1:p.Lys216Met
NM_020988.3:c.773A>T MANE Select	NP_066268.1:p.Lys258Met