Canonical Allele Identifier: CA395951379

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368645C>A (hg19) ; chr16:g.56334733C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334733C>A , CM000678.2:g.56334733C>A	GRCh38
NC_000016.9:g.56368645C>A , CM000678.1:g.56368645C>A	GRCh37
NC_000016.8:g.54926146C>A	NCBI36
NG_042800.1:g.148395C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.469C>A	ENSP00000262494.7:p.Leu157Met
ENST00000262493.12:c.469C>A MANE Select	ENSP00000262493.6:p.Leu157Met
ENST00000262494.12:c.469C>A	ENSP00000262494.7:p.Leu157Met
ENST00000562316.6:c.136C>A	ENSP00000457238.2:p.Leu46Met
ENST00000638185.1:n.684C>A
ENST00000638210.1:n.769C>A
ENST00000638705.1:c.469C>A	ENSP00000491223.1:p.Leu157Met
ENST00000638836.1:n.379C>A
ENST00000639055.1:n.1190C>A
ENST00000639251.1:n.370C>A
ENST00000639268.1:c.229-1998C>A
ENST00000639770.1:c.507C>A	ENSP00000491999.1:n.507C>A
ENST00000640390.1:n.399C>A
ENST00000640893.1:c.308C>A	ENSP00000492677.1:p.Pro103His
ENST00000262493.10:c.469C>A	ENSP00000262493.6:p.Leu157Met
ENST00000262494.11:c.469C>A	ENSP00000262494.7:p.Leu157Met
ENST00000562316.5:c.208C>A	ENSP00000457238.1:p.Leu70Met
ENST00000563440.1:c.208C>A	ENSP00000455774.1:p.Leu70Met
ENST00000565363.5:c.343C>A	ENSP00000454728.1:p.Leu115Met
NM_020988.2:c.469C>A	NP_066268.1:p.Leu157Met
NM_138736.2:c.469C>A	NP_620073.2:p.Leu157Met
XM_011523003.1:c.343C>A	XP_011521305.1:p.Leu115Met
XM_011523003.3:c.343C>A	XP_011521305.1:p.Leu115Met
NM_020988.3:c.469C>A MANE Select	NP_066268.1:p.Leu157Met
NM_138736.3:c.469C>A	NP_620073.2:p.Leu157Met