Canonical Allele Identifier: CA721992363

Gene: GNAO1

Linked Data

• dbSNP Id: rs1193842645
• MyVariant Identifiers: chr16:g.56385436T>C (hg19) ; chr16:g.56351524T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351524T>C , CM000678.2:g.56351524T>C	GRCh38
NC_000016.9:g.56385436T>C , CM000678.1:g.56385436T>C	GRCh37
NC_000016.8:g.54942937T>C	NCBI36
NG_042800.1:g.165186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.864T>C MANE Select	ENSP00000262493.6:p.Phe288=
ENST00000562316.6:c.531T>C	ENSP00000457238.2:p.Phe177=
ENST00000564727.2:c.168T>C	ENSP00000454971.2:p.Phe56=
ENST00000568375.2:c.116-3342T>C
ENST00000638185.1:n.1079T>C
ENST00000638210.1:n.1164T>C
ENST00000638705.1:c.864T>C	ENSP00000491223.1:p.Phe288=
ENST00000638836.1:n.774T>C
ENST00000639055.1:n.1585T>C
ENST00000639251.1:n.765T>C
ENST00000639268.1:c.499T>C
ENST00000639341.1:c.389T>C
ENST00000639770.1:c.902T>C	ENSP00000491999.1:n.902T>C
ENST00000640390.1:n.794T>C
ENST00000640469.1:c.228T>C	ENSP00000491875.1:p.Phe76=
ENST00000640560.1:n.640T>C
ENST00000640893.1:c.*262T>C	ENSP00000492677.1:n.*262T>C
ENST00000262493.10:c.864T>C	ENSP00000262493.6:p.Phe288=
ENST00000564727.1:c.84T>C	ENSP00000454971.1:p.Phe28=
ENST00000568375.1:n.116-3342T>C
NM_020988.2:c.864T>C	NP_066268.1:p.Phe288=
XM_011523003.1:c.738T>C	XP_011521305.1:p.Phe246=
XM_011523003.3:c.738T>C	XP_011521305.1:p.Phe246=
NM_020988.3:c.864T>C MANE Select	NP_066268.1:p.Phe288=