Canonical Allele Identifier: CA395954661

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385332A>T (hg19) ; chr16:g.56351420A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351420A>T , CM000678.2:g.56351420A>T	GRCh38
NC_000016.9:g.56385332A>T , CM000678.1:g.56385332A>T	GRCh37
NC_000016.8:g.54942833A>T	NCBI36
NG_042800.1:g.165082A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.760A>T MANE Select	ENSP00000262493.6:p.Ile254Phe
ENST00000562316.6:c.427A>T	ENSP00000457238.2:p.Ile143Phe
ENST00000564727.2:c.64A>T	ENSP00000454971.2:p.Ile22Phe
ENST00000568375.2:c.116-3446A>T
ENST00000638185.1:n.975A>T
ENST00000638210.1:n.1060A>T
ENST00000638705.1:c.760A>T	ENSP00000491223.1:p.Ile254Phe
ENST00000638836.1:n.670A>T
ENST00000639055.1:n.1481A>T
ENST00000639251.1:n.661A>T
ENST00000639268.1:c.395A>T
ENST00000639341.1:c.285A>T
ENST00000639770.1:c.798A>T	ENSP00000491999.1:n.798A>T
ENST00000640390.1:n.690A>T
ENST00000640469.1:c.124A>T	ENSP00000491875.1:p.Ile42Phe
ENST00000640560.1:n.536A>T
ENST00000640893.1:c.*158A>T	ENSP00000492677.1:n.*158A>T
ENST00000262493.10:c.760A>T	ENSP00000262493.6:p.Ile254Phe
ENST00000568375.1:n.116-3446A>T
NM_020988.2:c.760A>T	NP_066268.1:p.Ile254Phe
XM_011523003.1:c.634A>T	XP_011521305.1:p.Ile212Phe
XM_011523003.3:c.634A>T	XP_011521305.1:p.Ile212Phe
NM_020988.3:c.760A>T MANE Select	NP_066268.1:p.Ile254Phe