Canonical Allele Identifier: CA396128621

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 435341
• ClinVar RCV Id: RCV000499510 ; RCV003458445 ; RCV002524192 ; RCV004023375
• dbSNP Id: rs1555499800
• MyVariant Identifiers: chr16:g.56226510C>T (hg19) ; chr16:g.56192598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56192598C>T , CM000678.2:g.56192598C>T	GRCh38
NC_000016.9:g.56226510C>T , CM000678.1:g.56226510C>T	GRCh37
NC_000016.8:g.54784011C>T	NCBI36
NG_042800.1:g.6260C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.143C>T	ENSP00000262494.7:p.Thr48Ile
ENST00000262493.12:c.143C>T MANE Select	ENSP00000262493.6:p.Thr48Ile
ENST00000262494.12:c.143C>T	ENSP00000262494.7:p.Thr48Ile
ENST00000563661.2:c.143C>T	ENSP00000492694.1:p.Thr48Ile
ENST00000569295.6:c.143C>T	ENSP00000492271.1:p.Thr48Ile
ENST00000570235.2:c.143C>T	ENSP00000477740.2:p.Thr48Ile
ENST00000638705.1:c.143C>T	ENSP00000491223.1:p.Thr48Ile
ENST00000638836.1:n.53C>T
ENST00000639251.1:n.44C>T
ENST00000639770.1:c.110C>T	ENSP00000491999.1:p.Thr37Ile
ENST00000639966.1:n.158C>T
ENST00000640893.1:c.143C>T	ENSP00000492677.1:p.Thr48Ile
ENST00000675160.1:c.143C>T	ENSP00000502403.1:p.Thr48Ile
ENST00000262493.10:c.143C>T	ENSP00000262493.6:p.Thr48Ile
ENST00000262494.11:c.143C>T	ENSP00000262494.7:p.Thr48Ile
ENST00000563661.1:n.140C>T
ENST00000565363.5:c.-356C>T	ENSP00000454728.1:n.-356C>T
ENST00000569295.5:n.365C>T
ENST00000570235.1:c.143C>T	ENSP00000477740.1:p.Thr48Ile
NM_020988.2:c.143C>T	NP_066268.1:p.Thr48Ile
NM_138736.2:c.143C>T	NP_620073.2:p.Thr48Ile
XM_011523003.1:c.-356C>T	XP_011521305.1:n.-356C>T
XM_011523003.3:c.-356C>T	XP_011521305.1:n.-356C>T
NM_020988.3:c.143C>T MANE Select	NP_066268.1:p.Thr48Ile
NM_138736.3:c.143C>T	NP_620073.2:p.Thr48Ile