Canonical Allele Identifier: CA395951452

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368679A>T (hg19) ; chr16:g.56334767A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334767A>T , CM000678.2:g.56334767A>T	GRCh38
NC_000016.9:g.56368679A>T , CM000678.1:g.56368679A>T	GRCh37
NC_000016.8:g.54926180A>T	NCBI36
NG_042800.1:g.148429A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.503A>T	ENSP00000262494.7:p.Tyr168Phe
ENST00000262493.12:c.503A>T MANE Select	ENSP00000262493.6:p.Tyr168Phe
ENST00000262494.12:c.503A>T	ENSP00000262494.7:p.Tyr168Phe
ENST00000562316.6:c.170A>T	ENSP00000457238.2:p.Tyr57Phe
ENST00000638185.1:n.718A>T
ENST00000638210.1:n.803A>T
ENST00000638705.1:c.503A>T	ENSP00000491223.1:p.Tyr168Phe
ENST00000638836.1:n.413A>T
ENST00000639055.1:n.1224A>T
ENST00000639251.1:n.404A>T
ENST00000639268.1:c.229-1964A>T
ENST00000639341.1:c.28A>T
ENST00000639770.1:c.541A>T	ENSP00000491999.1:n.541A>T
ENST00000640390.1:n.433A>T
ENST00000640893.1:c.342A>T	ENSP00000492677.1:p.Leu114=
ENST00000262493.10:c.503A>T	ENSP00000262493.6:p.Tyr168Phe
ENST00000262494.11:c.503A>T	ENSP00000262494.7:p.Tyr168Phe
ENST00000562316.5:c.242A>T	ENSP00000457238.1:p.Tyr81Phe
ENST00000563440.1:c.242A>T	ENSP00000455774.1:p.Tyr81Phe
ENST00000565363.5:c.377A>T	ENSP00000454728.1:p.Tyr126Phe
NM_020988.2:c.503A>T	NP_066268.1:p.Tyr168Phe
NM_138736.2:c.503A>T	NP_620073.2:p.Tyr168Phe
XM_011523003.1:c.377A>T	XP_011521305.1:p.Tyr126Phe
XM_011523003.3:c.377A>T	XP_011521305.1:p.Tyr126Phe
NM_020988.3:c.503A>T MANE Select	NP_066268.1:p.Tyr168Phe
NM_138736.3:c.503A>T	NP_620073.2:p.Tyr168Phe