Canonical Allele Identifier: CA395954904

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385434T>C (hg19) ; chr16:g.56351522T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351522T>C , CM000678.2:g.56351522T>C	GRCh38
NC_000016.9:g.56385434T>C , CM000678.1:g.56385434T>C	GRCh37
NC_000016.8:g.54942935T>C	NCBI36
NG_042800.1:g.165184T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.862T>C MANE Select	ENSP00000262493.6:p.Phe288Leu
ENST00000562316.6:c.529T>C	ENSP00000457238.2:p.Phe177Leu
ENST00000564727.2:c.166T>C	ENSP00000454971.2:p.Phe56Leu
ENST00000568375.2:c.116-3344T>C
ENST00000638185.1:n.1077T>C
ENST00000638210.1:n.1162T>C
ENST00000638705.1:c.862T>C	ENSP00000491223.1:p.Phe288Leu
ENST00000638836.1:n.772T>C
ENST00000639055.1:n.1583T>C
ENST00000639251.1:n.763T>C
ENST00000639268.1:c.497T>C
ENST00000639341.1:c.387T>C
ENST00000639770.1:c.900T>C	ENSP00000491999.1:n.900T>C
ENST00000640390.1:n.792T>C
ENST00000640469.1:c.226T>C	ENSP00000491875.1:p.Phe76Leu
ENST00000640560.1:n.638T>C
ENST00000640893.1:c.*260T>C	ENSP00000492677.1:n.*260T>C
ENST00000262493.10:c.862T>C	ENSP00000262493.6:p.Phe288Leu
ENST00000564727.1:c.82T>C	ENSP00000454971.1:p.Phe28Leu
ENST00000568375.1:n.116-3344T>C
NM_020988.2:c.862T>C	NP_066268.1:p.Phe288Leu
XM_011523003.1:c.736T>C	XP_011521305.1:p.Phe246Leu
XM_011523003.3:c.736T>C	XP_011521305.1:p.Phe246Leu
NM_020988.3:c.862T>C MANE Select	NP_066268.1:p.Phe288Leu