Canonical Allele Identifier: CA395955264

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388906T>C (hg19) ; chr16:g.56354994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354994T>C , CM000678.2:g.56354994T>C	GRCh38
NC_000016.9:g.56388906T>C , CM000678.1:g.56388906T>C	GRCh37
NC_000016.8:g.54946407T>C	NCBI36
NG_042800.1:g.168656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.1006T>C MANE Select	ENSP00000262493.6:p.Phe336Leu
ENST00000562316.6:c.545-1109T>C	ENSP00000457238.2:n.545-1109T>C
ENST00000564727.2:c.303+7T>C	ENSP00000454971.2:n.303+7T>C
ENST00000568375.2:c.244T>C
ENST00000638210.1:n.1306T>C
ENST00000638705.1:c.1006T>C	ENSP00000491223.1:p.Phe336Leu
ENST00000638836.1:n.916T>C
ENST00000639251.1:n.907T>C
ENST00000639268.1:c.641T>C
ENST00000639341.1:c.531T>C
ENST00000639770.1:c.1044T>C	ENSP00000491999.1:n.1044T>C
ENST00000640390.1:n.936T>C
ENST00000640469.1:c.370T>C	ENSP00000491875.1:p.Phe124Leu
ENST00000640560.1:n.782T>C
ENST00000640893.1:c.*404T>C	ENSP00000492677.1:n.*404T>C
ENST00000262493.10:c.1006T>C	ENSP00000262493.6:p.Phe336Leu
ENST00000564727.1:c.226T>C	ENSP00000454971.1:p.Phe76Leu
ENST00000568375.1:n.244T>C
NM_020988.2:c.1006T>C	NP_066268.1:p.Phe336Leu
XM_011523003.1:c.880T>C	XP_011521305.1:p.Phe294Leu
XM_011523003.3:c.880T>C	XP_011521305.1:p.Phe294Leu
NM_020988.3:c.1006T>C MANE Select	NP_066268.1:p.Phe336Leu