Canonical Allele Identifier: CA395954714

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385353A>C (hg19) ; chr16:g.56351441A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351441A>C , CM000678.2:g.56351441A>C	GRCh38
NC_000016.9:g.56385353A>C , CM000678.1:g.56385353A>C	GRCh37
NC_000016.8:g.54942854A>C	NCBI36
NG_042800.1:g.165103A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.781A>C MANE Select	ENSP00000262493.6:p.Ile261Leu
ENST00000562316.6:c.448A>C	ENSP00000457238.2:p.Ile150Leu
ENST00000564727.2:c.85A>C	ENSP00000454971.2:p.Ile29Leu
ENST00000568375.2:c.116-3425A>C
ENST00000638185.1:n.996A>C
ENST00000638210.1:n.1081A>C
ENST00000638705.1:c.781A>C	ENSP00000491223.1:p.Ile261Leu
ENST00000638836.1:n.691A>C
ENST00000639055.1:n.1502A>C
ENST00000639251.1:n.682A>C
ENST00000639268.1:c.416A>C
ENST00000639341.1:c.306A>C
ENST00000639770.1:c.819A>C	ENSP00000491999.1:n.819A>C
ENST00000640390.1:n.711A>C
ENST00000640469.1:c.145A>C	ENSP00000491875.1:p.Ile49Leu
ENST00000640560.1:n.557A>C
ENST00000640893.1:c.*179A>C	ENSP00000492677.1:n.*179A>C
ENST00000262493.10:c.781A>C	ENSP00000262493.6:p.Ile261Leu
ENST00000564727.1:c.1A>C	ENSP00000454971.1:p.Ile1Leu
ENST00000568375.1:n.116-3425A>C
NM_020988.2:c.781A>C	NP_066268.1:p.Ile261Leu
XM_011523003.1:c.655A>C	XP_011521305.1:p.Ile219Leu
XM_011523003.3:c.655A>C	XP_011521305.1:p.Ile219Leu
NM_020988.3:c.781A>C MANE Select	NP_066268.1:p.Ile261Leu