Canonical Allele Identifier: CA395954743

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385366T>C (hg19) ; chr16:g.56351454T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351454T>C , CM000678.2:g.56351454T>C	GRCh38
NC_000016.9:g.56385366T>C , CM000678.1:g.56385366T>C	GRCh37
NC_000016.8:g.54942867T>C	NCBI36
NG_042800.1:g.165116T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.794T>C MANE Select	ENSP00000262493.6:p.Ile265Thr
ENST00000562316.6:c.461T>C	ENSP00000457238.2:p.Ile154Thr
ENST00000564727.2:c.98T>C	ENSP00000454971.2:p.Ile33Thr
ENST00000568375.2:c.116-3412T>C
ENST00000638185.1:n.1009T>C
ENST00000638210.1:n.1094T>C
ENST00000638705.1:c.794T>C	ENSP00000491223.1:p.Ile265Thr
ENST00000638836.1:n.704T>C
ENST00000639055.1:n.1515T>C
ENST00000639251.1:n.695T>C
ENST00000639268.1:c.429T>C
ENST00000639341.1:c.319T>C
ENST00000639770.1:c.832T>C	ENSP00000491999.1:n.832T>C
ENST00000640390.1:n.724T>C
ENST00000640469.1:c.158T>C	ENSP00000491875.1:p.Ile53Thr
ENST00000640560.1:n.570T>C
ENST00000640893.1:c.*192T>C	ENSP00000492677.1:n.*192T>C
ENST00000262493.10:c.794T>C	ENSP00000262493.6:p.Ile265Thr
ENST00000564727.1:c.14T>C	ENSP00000454971.1:p.Ile5Thr
ENST00000568375.1:n.116-3412T>C
NM_020988.2:c.794T>C	NP_066268.1:p.Ile265Thr
XM_011523003.1:c.668T>C	XP_011521305.1:p.Ile223Thr
XM_011523003.3:c.668T>C	XP_011521305.1:p.Ile223Thr
NM_020988.3:c.794T>C MANE Select	NP_066268.1:p.Ile265Thr