Canonical Allele Identifier: CA395954679

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385339A>T (hg19) ; chr16:g.56351427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351427A>T , CM000678.2:g.56351427A>T	GRCh38
NC_000016.9:g.56385339A>T , CM000678.1:g.56385339A>T	GRCh37
NC_000016.8:g.54942840A>T	NCBI36
NG_042800.1:g.165089A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.767A>T MANE Select	ENSP00000262493.6:p.Asn256Ile
ENST00000562316.6:c.434A>T	ENSP00000457238.2:p.Asn145Ile
ENST00000564727.2:c.71A>T	ENSP00000454971.2:p.Asn24Ile
ENST00000568375.2:c.116-3439A>T
ENST00000638185.1:n.982A>T
ENST00000638210.1:n.1067A>T
ENST00000638705.1:c.767A>T	ENSP00000491223.1:p.Asn256Ile
ENST00000638836.1:n.677A>T
ENST00000639055.1:n.1488A>T
ENST00000639251.1:n.668A>T
ENST00000639268.1:c.402A>T
ENST00000639341.1:c.292A>T
ENST00000639770.1:c.805A>T	ENSP00000491999.1:n.805A>T
ENST00000640390.1:n.697A>T
ENST00000640469.1:c.131A>T	ENSP00000491875.1:p.Asn44Ile
ENST00000640560.1:n.543A>T
ENST00000640893.1:c.*165A>T	ENSP00000492677.1:n.*165A>T
ENST00000262493.10:c.767A>T	ENSP00000262493.6:p.Asn256Ile
ENST00000568375.1:n.116-3439A>T
NM_020988.2:c.767A>T	NP_066268.1:p.Asn256Ile
XM_011523003.1:c.641A>T	XP_011521305.1:p.Asn214Ile
XM_011523003.3:c.641A>T	XP_011521305.1:p.Asn214Ile
NM_020988.3:c.767A>T MANE Select	NP_066268.1:p.Asn256Ile