Canonical Allele Identifier: CA495585926

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388830C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354918C>T , CM000678.2:g.56354918C>T	GRCh38
NC_000016.9:g.56388830C>T , CM000678.1:g.56388830C>T	GRCh37
NC_000016.8:g.54946331C>T	NCBI36
NG_042800.1:g.168580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.930C>T MANE Select	ENSP00000262493.6:p.Ser310=
ENST00000562316.6:c.545-1185C>T	ENSP00000457238.2:n.545-1185C>T
ENST00000564727.2:c.234C>T	ENSP00000454971.2:p.Ser78=
ENST00000568375.2:c.168C>T
ENST00000638185.1:n.1145C>T
ENST00000638210.1:n.1230C>T
ENST00000638705.1:c.930C>T	ENSP00000491223.1:p.Ser310=
ENST00000638836.1:n.840C>T
ENST00000639055.1:n.1651C>T
ENST00000639251.1:n.831C>T
ENST00000639268.1:c.565C>T
ENST00000639341.1:c.455C>T
ENST00000639770.1:c.968C>T	ENSP00000491999.1:n.968C>T
ENST00000640390.1:n.860C>T
ENST00000640469.1:c.294C>T	ENSP00000491875.1:p.Ser98=
ENST00000640560.1:n.706C>T
ENST00000640893.1:c.*328C>T	ENSP00000492677.1:n.*328C>T
ENST00000262493.10:c.930C>T	ENSP00000262493.6:p.Ser310=
ENST00000564727.1:c.150C>T	ENSP00000454971.1:p.Ser50=
ENST00000568375.1:n.168C>T
NM_020988.2:c.930C>T	NP_066268.1:p.Ser310=
XM_011523003.1:c.804C>T	XP_011521305.1:p.Ser268=
XM_011523003.3:c.804C>T	XP_011521305.1:p.Ser268=
NM_020988.3:c.930C>T MANE Select	NP_066268.1:p.Ser310=