Canonical Allele Identifier: CA395954828

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385401G>T (hg19) ; chr16:g.56351489G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351489G>T , CM000678.2:g.56351489G>T	GRCh38
NC_000016.9:g.56385401G>T , CM000678.1:g.56385401G>T	GRCh37
NC_000016.8:g.54942902G>T	NCBI36
NG_042800.1:g.165151G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.829G>T MANE Select	ENSP00000262493.6:p.Glu277Ter
ENST00000562316.6:c.496G>T	ENSP00000457238.2:p.Glu166Ter
ENST00000564727.2:c.133G>T	ENSP00000454971.2:p.Glu45Ter
ENST00000568375.2:c.116-3377G>T
ENST00000638185.1:n.1044G>T
ENST00000638210.1:n.1129G>T
ENST00000638705.1:c.829G>T	ENSP00000491223.1:p.Glu277Ter
ENST00000638836.1:n.739G>T
ENST00000639055.1:n.1550G>T
ENST00000639251.1:n.730G>T
ENST00000639268.1:c.464G>T
ENST00000639341.1:c.354G>T
ENST00000639770.1:c.867G>T	ENSP00000491999.1:n.867G>T
ENST00000640390.1:n.759G>T
ENST00000640469.1:c.193G>T	ENSP00000491875.1:p.Glu65Ter
ENST00000640560.1:n.605G>T
ENST00000640893.1:c.*227G>T	ENSP00000492677.1:n.*227G>T
ENST00000262493.10:c.829G>T	ENSP00000262493.6:p.Glu277Ter
ENST00000564727.1:c.49G>T	ENSP00000454971.1:p.Glu17Ter
ENST00000568375.1:n.116-3377G>T
NM_020988.2:c.829G>T	NP_066268.1:p.Glu277Ter
XM_011523003.1:c.703G>T	XP_011521305.1:p.Glu235Ter
XM_011523003.3:c.703G>T	XP_011521305.1:p.Glu235Ter
NM_020988.3:c.829G>T MANE Select	NP_066268.1:p.Glu277Ter