Canonical Allele Identifier: CA395954925

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385443T>G (hg19) ; chr16:g.56351531T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351531T>G , CM000678.2:g.56351531T>G	GRCh38
NC_000016.9:g.56385443T>G , CM000678.1:g.56385443T>G	GRCh37
NC_000016.8:g.54942944T>G	NCBI36
NG_042800.1:g.165193T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.871T>G MANE Select	ENSP00000262493.6:p.Tyr291Asp
ENST00000562316.6:c.538T>G	ENSP00000457238.2:p.Tyr180Asp
ENST00000564727.2:c.175T>G	ENSP00000454971.2:p.Tyr59Asp
ENST00000568375.2:c.116-3335T>G
ENST00000638185.1:n.1086T>G
ENST00000638210.1:n.1171T>G
ENST00000638705.1:c.871T>G	ENSP00000491223.1:p.Tyr291Asp
ENST00000638836.1:n.781T>G
ENST00000639055.1:n.1592T>G
ENST00000639251.1:n.772T>G
ENST00000639268.1:c.506T>G
ENST00000639341.1:c.396T>G
ENST00000639770.1:c.909T>G	ENSP00000491999.1:n.909T>G
ENST00000640390.1:n.801T>G
ENST00000640469.1:c.235T>G	ENSP00000491875.1:p.Tyr79Asp
ENST00000640560.1:n.647T>G
ENST00000640893.1:c.*269T>G	ENSP00000492677.1:n.*269T>G
ENST00000262493.10:c.871T>G	ENSP00000262493.6:p.Tyr291Asp
ENST00000564727.1:c.91T>G	ENSP00000454971.1:p.Tyr31Asp
ENST00000568375.1:n.116-3335T>G
NM_020988.2:c.871T>G	NP_066268.1:p.Tyr291Asp
XM_011523003.1:c.745T>G	XP_011521305.1:p.Tyr249Asp
XM_011523003.3:c.745T>G	XP_011521305.1:p.Tyr249Asp
NM_020988.3:c.871T>G MANE Select	NP_066268.1:p.Tyr291Asp