Canonical Allele Identifier: CA395951524

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368702C>A (hg19) ; chr16:g.56334790C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334790C>A , CM000678.2:g.56334790C>A	GRCh38
NC_000016.9:g.56368702C>A , CM000678.1:g.56368702C>A	GRCh37
NC_000016.8:g.54926203C>A	NCBI36
NG_042800.1:g.148452C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.526C>A	ENSP00000262494.7:p.Leu176Ile
ENST00000262493.12:c.526C>A MANE Select	ENSP00000262493.6:p.Leu176Ile
ENST00000262494.12:c.526C>A	ENSP00000262494.7:p.Leu176Ile
ENST00000562316.6:c.193C>A	ENSP00000457238.2:p.Leu65Ile
ENST00000638185.1:n.741C>A
ENST00000638210.1:n.826C>A
ENST00000638705.1:c.526C>A	ENSP00000491223.1:p.Leu176Ile
ENST00000638836.1:n.436C>A
ENST00000639055.1:n.1247C>A
ENST00000639251.1:n.427C>A
ENST00000639268.1:c.229-1941C>A
ENST00000639341.1:c.51C>A
ENST00000639770.1:c.564C>A	ENSP00000491999.1:n.564C>A
ENST00000640390.1:n.456C>A
ENST00000640893.1:c.365C>A	ENSP00000492677.1:p.Pro122His
ENST00000262493.10:c.526C>A	ENSP00000262493.6:p.Leu176Ile
ENST00000262494.11:c.526C>A	ENSP00000262494.7:p.Leu176Ile
ENST00000562316.5:c.265C>A	ENSP00000457238.1:p.Leu89Ile
NM_020988.2:c.526C>A	NP_066268.1:p.Leu176Ile
NM_138736.2:c.526C>A	NP_620073.2:p.Leu176Ile
XM_011523003.1:c.400C>A	XP_011521305.1:p.Leu134Ile
XM_011523003.3:c.400C>A	XP_011521305.1:p.Leu134Ile
NM_020988.3:c.526C>A MANE Select	NP_066268.1:p.Leu176Ile
NM_138736.3:c.526C>A	NP_620073.2:p.Leu176Ile