Canonical Allele Identifier: CA395954892

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385429T>C (hg19) ; chr16:g.56351517T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351517T>C , CM000678.2:g.56351517T>C	GRCh38
NC_000016.9:g.56385429T>C , CM000678.1:g.56385429T>C	GRCh37
NC_000016.8:g.54942930T>C	NCBI36
NG_042800.1:g.165179T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.857T>C MANE Select	ENSP00000262493.6:p.Ile286Thr
ENST00000562316.6:c.524T>C	ENSP00000457238.2:p.Ile175Thr
ENST00000564727.2:c.161T>C	ENSP00000454971.2:p.Ile54Thr
ENST00000568375.2:c.116-3349T>C
ENST00000638185.1:n.1072T>C
ENST00000638210.1:n.1157T>C
ENST00000638705.1:c.857T>C	ENSP00000491223.1:p.Ile286Thr
ENST00000638836.1:n.767T>C
ENST00000639055.1:n.1578T>C
ENST00000639251.1:n.758T>C
ENST00000639268.1:c.492T>C
ENST00000639341.1:c.382T>C
ENST00000639770.1:c.895T>C	ENSP00000491999.1:n.895T>C
ENST00000640390.1:n.787T>C
ENST00000640469.1:c.221T>C	ENSP00000491875.1:p.Ile74Thr
ENST00000640560.1:n.633T>C
ENST00000640893.1:c.*255T>C	ENSP00000492677.1:n.*255T>C
ENST00000262493.10:c.857T>C	ENSP00000262493.6:p.Ile286Thr
ENST00000564727.1:c.77T>C	ENSP00000454971.1:p.Ile26Thr
ENST00000568375.1:n.116-3349T>C
NM_020988.2:c.857T>C	NP_066268.1:p.Ile286Thr
XM_011523003.1:c.731T>C	XP_011521305.1:p.Ile244Thr
XM_011523003.3:c.731T>C	XP_011521305.1:p.Ile244Thr
NM_020988.3:c.857T>C MANE Select	NP_066268.1:p.Ile286Thr