Canonical Allele Identifier: CA395951525

Gene: GNAO1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.526C>G	ENSP00000262494.7:p.Leu176Val
ENST00000262493.12:c.526C>G MANE Select	ENSP00000262493.6:p.Leu176Val
ENST00000262494.12:c.526C>G	ENSP00000262494.7:p.Leu176Val
ENST00000562316.6:c.193C>G	ENSP00000457238.2:p.Leu65Val
ENST00000638185.1:n.741C>G
ENST00000638210.1:n.826C>G
ENST00000638705.1:c.526C>G	ENSP00000491223.1:p.Leu176Val
ENST00000638836.1:n.436C>G
ENST00000639055.1:n.1247C>G
ENST00000639251.1:n.427C>G
ENST00000639268.1:c.229-1941C>G
ENST00000639341.1:c.51C>G
ENST00000639770.1:c.564C>G	ENSP00000491999.1:n.564C>G
ENST00000640390.1:n.456C>G
ENST00000640893.1:c.365C>G	ENSP00000492677.1:p.Pro122Arg
ENST00000262493.10:c.526C>G	ENSP00000262493.6:p.Leu176Val
ENST00000262494.11:c.526C>G	ENSP00000262494.7:p.Leu176Val
ENST00000562316.5:c.265C>G	ENSP00000457238.1:p.Leu89Val
NM_020988.2:c.526C>G	NP_066268.1:p.Leu176Val
NM_138736.2:c.526C>G	NP_620073.2:p.Leu176Val
XM_011523003.1:c.400C>G	XP_011521305.1:p.Leu134Val
XM_011523003.3:c.400C>G	XP_011521305.1:p.Leu134Val
NM_020988.3:c.526C>G MANE Select	NP_066268.1:p.Leu176Val
NM_138736.3:c.526C>G	NP_620073.2:p.Leu176Val