Canonical Allele Identifier: CA395951471

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368687A>T (hg19) ; chr16:g.56334775A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334775A>T , CM000678.2:g.56334775A>T	GRCh38
NC_000016.9:g.56368687A>T , CM000678.1:g.56368687A>T	GRCh37
NC_000016.8:g.54926188A>T	NCBI36
NG_042800.1:g.148437A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.511A>T	ENSP00000262494.7:p.Thr171Ser
ENST00000262493.12:c.511A>T MANE Select	ENSP00000262493.6:p.Thr171Ser
ENST00000262494.12:c.511A>T	ENSP00000262494.7:p.Thr171Ser
ENST00000562316.6:c.178A>T	ENSP00000457238.2:p.Thr60Ser
ENST00000638185.1:n.726A>T
ENST00000638210.1:n.811A>T
ENST00000638705.1:c.511A>T	ENSP00000491223.1:p.Thr171Ser
ENST00000638836.1:n.421A>T
ENST00000639055.1:n.1232A>T
ENST00000639251.1:n.412A>T
ENST00000639268.1:c.229-1956A>T
ENST00000639341.1:c.36A>T
ENST00000639770.1:c.549A>T	ENSP00000491999.1:n.549A>T
ENST00000640390.1:n.441A>T
ENST00000640893.1:c.350A>T	ENSP00000492677.1:p.His117Leu
ENST00000262493.10:c.511A>T	ENSP00000262493.6:p.Thr171Ser
ENST00000262494.11:c.511A>T	ENSP00000262494.7:p.Thr171Ser
ENST00000562316.5:c.250A>T	ENSP00000457238.1:p.Thr84Ser
ENST00000563440.1:c.250A>T
ENST00000565363.5:c.385A>T
NM_020988.2:c.511A>T	NP_066268.1:p.Thr171Ser
NM_138736.2:c.511A>T	NP_620073.2:p.Thr171Ser
XM_011523003.1:c.385A>T	XP_011521305.1:p.Thr129Ser
XM_011523003.3:c.385A>T	XP_011521305.1:p.Thr129Ser
NM_020988.3:c.511A>T MANE Select	NP_066268.1:p.Thr171Ser
NM_138736.3:c.511A>T	NP_620073.2:p.Thr171Ser