Canonical Allele Identifier: CA395952381

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370752C>G (hg19) ; chr16:g.56336840C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336840C>G , CM000678.2:g.56336840C>G	GRCh38
NC_000016.9:g.56370752C>G , CM000678.1:g.56370752C>G	GRCh37
NC_000016.8:g.54928253C>G	NCBI36
NG_042800.1:g.150502C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.703C>G	ENSP00000262494.7:p.Leu235Val
ENST00000262493.12:c.703C>G MANE Select	ENSP00000262493.6:p.Leu235Val
ENST00000262494.12:c.703C>G	ENSP00000262494.7:p.Leu235Val
ENST00000562316.6:c.370C>G	ENSP00000457238.2:p.Leu124Val
ENST00000564727.2:c.7C>G	ENSP00000454971.2:p.Leu3Val
ENST00000568375.2:c.95C>G
ENST00000638185.1:n.918C>G
ENST00000638210.1:n.1003C>G
ENST00000638705.1:c.703C>G	ENSP00000491223.1:p.Leu235Val
ENST00000638836.1:n.613C>G
ENST00000639055.1:n.1424C>G
ENST00000639251.1:n.604C>G
ENST00000639268.1:c.338C>G
ENST00000639341.1:c.228C>G
ENST00000639770.1:c.741C>G	ENSP00000491999.1:n.741C>G
ENST00000640390.1:n.633C>G
ENST00000640469.1:c.67C>G	ENSP00000491875.1:p.Leu23Val
ENST00000640560.1:n.479C>G
ENST00000640893.1:c.*101C>G	ENSP00000492677.1:n.*101C>G
ENST00000262493.10:c.703C>G	ENSP00000262493.6:p.Leu235Val
ENST00000262494.11:c.703C>G	ENSP00000262494.7:p.Leu235Val
ENST00000568375.1:n.95C>G
NM_020988.2:c.703C>G	NP_066268.1:p.Leu235Val
NM_138736.2:c.703C>G	NP_620073.2:p.Leu235Val
XM_011523003.1:c.577C>G	XP_011521305.1:p.Leu193Val
XM_011523003.3:c.577C>G	XP_011521305.1:p.Leu193Val
NM_020988.3:c.703C>G MANE Select	NP_066268.1:p.Leu235Val
NM_138736.3:c.703C>G	NP_620073.2:p.Leu235Val