Canonical Allele Identifier: CA395954845

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385408T>C (hg19) ; chr16:g.56351496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351496T>C , CM000678.2:g.56351496T>C	GRCh38
NC_000016.9:g.56385408T>C , CM000678.1:g.56385408T>C	GRCh37
NC_000016.8:g.54942909T>C	NCBI36
NG_042800.1:g.165158T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.836T>C MANE Select	ENSP00000262493.6:p.Ile279Thr
ENST00000562316.6:c.503T>C	ENSP00000457238.2:p.Ile168Thr
ENST00000564727.2:c.140T>C	ENSP00000454971.2:p.Ile47Thr
ENST00000568375.2:c.116-3370T>C
ENST00000638185.1:n.1051T>C
ENST00000638210.1:n.1136T>C
ENST00000638705.1:c.836T>C	ENSP00000491223.1:p.Ile279Thr
ENST00000638836.1:n.746T>C
ENST00000639055.1:n.1557T>C
ENST00000639251.1:n.737T>C
ENST00000639268.1:c.471T>C
ENST00000639341.1:c.361T>C
ENST00000639770.1:c.874T>C	ENSP00000491999.1:n.874T>C
ENST00000640390.1:n.766T>C
ENST00000640469.1:c.200T>C	ENSP00000491875.1:p.Ile67Thr
ENST00000640560.1:n.612T>C
ENST00000640893.1:c.*234T>C	ENSP00000492677.1:n.*234T>C
ENST00000262493.10:c.836T>C	ENSP00000262493.6:p.Ile279Thr
ENST00000564727.1:c.56T>C	ENSP00000454971.1:p.Ile19Thr
ENST00000568375.1:n.116-3370T>C
NM_020988.2:c.836T>C	NP_066268.1:p.Ile279Thr
XM_011523003.1:c.710T>C	XP_011521305.1:p.Ile237Thr
XM_011523003.3:c.710T>C	XP_011521305.1:p.Ile237Thr
NM_020988.3:c.836T>C MANE Select	NP_066268.1:p.Ile279Thr