Canonical Allele Identifier: CA395952419

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370767A>T (hg19) ; chr16:g.56336855A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336855A>T , CM000678.2:g.56336855A>T	GRCh38
NC_000016.9:g.56370767A>T , CM000678.1:g.56370767A>T	GRCh37
NC_000016.8:g.54928268A>T	NCBI36
NG_042800.1:g.150517A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.718A>T	ENSP00000262494.7:p.Thr240Ser
ENST00000262493.12:c.718A>T MANE Select	ENSP00000262493.6:p.Thr240Ser
ENST00000262494.12:c.718A>T	ENSP00000262494.7:p.Thr240Ser
ENST00000562316.6:c.385A>T	ENSP00000457238.2:p.Thr129Ser
ENST00000564727.2:c.22A>T	ENSP00000454971.2:p.Thr8Ser
ENST00000568375.2:c.110A>T
ENST00000638185.1:n.933A>T
ENST00000638210.1:n.1018A>T
ENST00000638705.1:c.718A>T	ENSP00000491223.1:p.Thr240Ser
ENST00000638836.1:n.628A>T
ENST00000639055.1:n.1439A>T
ENST00000639251.1:n.619A>T
ENST00000639268.1:c.353A>T
ENST00000639341.1:c.243A>T
ENST00000639770.1:c.756A>T	ENSP00000491999.1:n.756A>T
ENST00000640390.1:n.648A>T
ENST00000640469.1:c.82A>T	ENSP00000491875.1:p.Thr28Ser
ENST00000640560.1:n.494A>T
ENST00000640893.1:c.*116A>T	ENSP00000492677.1:n.*116A>T
ENST00000262493.10:c.718A>T	ENSP00000262493.6:p.Thr240Ser
ENST00000262494.11:c.718A>T	ENSP00000262494.7:p.Thr240Ser
ENST00000568375.1:n.110A>T
NM_020988.2:c.718A>T	NP_066268.1:p.Thr240Ser
NM_138736.2:c.718A>T	NP_620073.2:p.Thr240Ser
XM_011523003.1:c.592A>T	XP_011521305.1:p.Thr198Ser
XM_011523003.3:c.592A>T	XP_011521305.1:p.Thr198Ser
NM_020988.3:c.718A>T MANE Select	NP_066268.1:p.Thr240Ser
NM_138736.3:c.718A>T	NP_620073.2:p.Thr240Ser