Canonical Allele Identifier: CA395951385

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368648G>T (hg19) ; chr16:g.56334736G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334736G>T , CM000678.2:g.56334736G>T	GRCh38
NC_000016.9:g.56368648G>T , CM000678.1:g.56368648G>T	GRCh37
NC_000016.8:g.54926149G>T	NCBI36
NG_042800.1:g.148398G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.472G>T	ENSP00000262494.7:p.Asp158Tyr
ENST00000262493.12:c.472G>T MANE Select	ENSP00000262493.6:p.Asp158Tyr
ENST00000262494.12:c.472G>T	ENSP00000262494.7:p.Asp158Tyr
ENST00000562316.6:c.139G>T	ENSP00000457238.2:p.Asp47Tyr
ENST00000638185.1:n.687G>T
ENST00000638210.1:n.772G>T
ENST00000638705.1:c.472G>T	ENSP00000491223.1:p.Asp158Tyr
ENST00000638836.1:n.382G>T
ENST00000639055.1:n.1193G>T
ENST00000639251.1:n.373G>T
ENST00000639268.1:c.229-1995G>T
ENST00000639770.1:c.510G>T	ENSP00000491999.1:n.510G>T
ENST00000640390.1:n.402G>T
ENST00000640893.1:c.311G>T	ENSP00000492677.1:p.Gly104Val
ENST00000262493.10:c.472G>T	ENSP00000262493.6:p.Asp158Tyr
ENST00000262494.11:c.472G>T	ENSP00000262494.7:p.Asp158Tyr
ENST00000562316.5:c.211G>T	ENSP00000457238.1:p.Asp71Tyr
ENST00000563440.1:c.211G>T	ENSP00000455774.1:p.Asp71Tyr
ENST00000565363.5:c.346G>T	ENSP00000454728.1:p.Asp116Tyr
NM_020988.2:c.472G>T	NP_066268.1:p.Asp158Tyr
NM_138736.2:c.472G>T	NP_620073.2:p.Asp158Tyr
XM_011523003.1:c.346G>T	XP_011521305.1:p.Asp116Tyr
XM_011523003.3:c.346G>T	XP_011521305.1:p.Asp116Tyr
NM_020988.3:c.472G>T MANE Select	NP_066268.1:p.Asp158Tyr
NM_138736.3:c.472G>T	NP_620073.2:p.Asp158Tyr