Canonical Allele Identifier: CA395952204

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370677A>T (hg19) ; chr16:g.56336765A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336765A>T , CM000678.2:g.56336765A>T	GRCh38
NC_000016.9:g.56370677A>T , CM000678.1:g.56370677A>T	GRCh37
NC_000016.8:g.54928178A>T	NCBI36
NG_042800.1:g.150427A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.628A>T	ENSP00000262494.7:p.Lys210Ter
ENST00000262493.12:c.628A>T MANE Select	ENSP00000262493.6:p.Lys210Ter
ENST00000262494.12:c.628A>T	ENSP00000262494.7:p.Lys210Ter
ENST00000562316.6:c.295A>T	ENSP00000457238.2:p.Lys99Ter
ENST00000568375.2:c.20A>T
ENST00000638185.1:n.843A>T
ENST00000638210.1:n.928A>T
ENST00000638705.1:c.628A>T	ENSP00000491223.1:p.Lys210Ter
ENST00000638836.1:n.538A>T
ENST00000639055.1:n.1349A>T
ENST00000639251.1:n.529A>T
ENST00000639268.1:c.263A>T
ENST00000639341.1:c.153A>T
ENST00000639770.1:c.666A>T	ENSP00000491999.1:n.666A>T
ENST00000640390.1:n.558A>T
ENST00000640560.1:n.404A>T
ENST00000640893.1:c.*26A>T	ENSP00000492677.1:n.*26A>T
ENST00000262493.10:c.628A>T	ENSP00000262493.6:p.Lys210Ter
ENST00000262494.11:c.628A>T	ENSP00000262494.7:p.Lys210Ter
ENST00000568375.1:n.20A>T
NM_020988.2:c.628A>T	NP_066268.1:p.Lys210Ter
NM_138736.2:c.628A>T	NP_620073.2:p.Lys210Ter
XM_011523003.1:c.502A>T	XP_011521305.1:p.Lys168Ter
XM_011523003.3:c.502A>T	XP_011521305.1:p.Lys168Ter
NM_020988.3:c.628A>T MANE Select	NP_066268.1:p.Lys210Ter
NM_138736.3:c.628A>T	NP_620073.2:p.Lys210Ter