Canonical Allele Identifier: CA395952368

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370746C>T (hg19) ; chr16:g.56336834C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336834C>T , CM000678.2:g.56336834C>T	GRCh38
NC_000016.9:g.56370746C>T , CM000678.1:g.56370746C>T	GRCh37
NC_000016.8:g.54928247C>T	NCBI36
NG_042800.1:g.150496C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.697C>T	ENSP00000262494.7:p.Gln233Ter
ENST00000262493.12:c.697C>T MANE Select	ENSP00000262493.6:p.Gln233Ter
ENST00000262494.12:c.697C>T	ENSP00000262494.7:p.Gln233Ter
ENST00000562316.6:c.364C>T	ENSP00000457238.2:p.Gln122Ter
ENST00000564727.2:c.1C>T	ENSP00000454971.2:p.Gln1Ter
ENST00000568375.2:c.89C>T
ENST00000638185.1:n.912C>T
ENST00000638210.1:n.997C>T
ENST00000638705.1:c.697C>T	ENSP00000491223.1:p.Gln233Ter
ENST00000638836.1:n.607C>T
ENST00000639055.1:n.1418C>T
ENST00000639251.1:n.598C>T
ENST00000639268.1:c.332C>T
ENST00000639341.1:c.222C>T
ENST00000639770.1:c.735C>T	ENSP00000491999.1:n.735C>T
ENST00000640390.1:n.627C>T
ENST00000640469.1:c.61C>T	ENSP00000491875.1:p.Gln21Ter
ENST00000640560.1:n.473C>T
ENST00000640893.1:c.*95C>T	ENSP00000492677.1:n.*95C>T
ENST00000262493.10:c.697C>T	ENSP00000262493.6:p.Gln233Ter
ENST00000262494.11:c.697C>T	ENSP00000262494.7:p.Gln233Ter
ENST00000568375.1:n.89C>T
NM_020988.2:c.697C>T	NP_066268.1:p.Gln233Ter
NM_138736.2:c.697C>T	NP_620073.2:p.Gln233Ter
XM_011523003.1:c.571C>T	XP_011521305.1:p.Gln191Ter
XM_011523003.3:c.571C>T	XP_011521305.1:p.Gln191Ter
NM_020988.3:c.697C>T MANE Select	NP_066268.1:p.Gln233Ter
NM_138736.3:c.697C>T	NP_620073.2:p.Gln233Ter