Canonical Allele Identifier: CA395951465

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368684C>T (hg19) ; chr16:g.56334772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334772C>T , CM000678.2:g.56334772C>T	GRCh38
NC_000016.9:g.56368684C>T , CM000678.1:g.56368684C>T	GRCh37
NC_000016.8:g.54926185C>T	NCBI36
NG_042800.1:g.148434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.508C>T	ENSP00000262494.7:p.Pro170Ser
ENST00000262493.12:c.508C>T MANE Select	ENSP00000262493.6:p.Pro170Ser
ENST00000262494.12:c.508C>T	ENSP00000262494.7:p.Pro170Ser
ENST00000562316.6:c.175C>T	ENSP00000457238.2:p.Pro59Ser
ENST00000638185.1:n.723C>T
ENST00000638210.1:n.808C>T
ENST00000638705.1:c.508C>T	ENSP00000491223.1:p.Pro170Ser
ENST00000638836.1:n.418C>T
ENST00000639055.1:n.1229C>T
ENST00000639251.1:n.409C>T
ENST00000639268.1:c.229-1959C>T
ENST00000639341.1:c.33C>T
ENST00000639770.1:c.546C>T	ENSP00000491999.1:n.546C>T
ENST00000640390.1:n.438C>T
ENST00000640893.1:c.347C>T	ENSP00000492677.1:p.Ala116Val
ENST00000262493.10:c.508C>T	ENSP00000262493.6:p.Pro170Ser
ENST00000262494.11:c.508C>T	ENSP00000262494.7:p.Pro170Ser
ENST00000562316.5:c.247C>T	ENSP00000457238.1:p.Pro83Ser
ENST00000563440.1:c.247C>T	ENSP00000455774.1:p.Pro83Ser
ENST00000565363.5:c.382C>T	ENSP00000454728.1:p.Pro128Ser
NM_020988.2:c.508C>T	NP_066268.1:p.Pro170Ser
NM_138736.2:c.508C>T	NP_620073.2:p.Pro170Ser
XM_011523003.1:c.382C>T	XP_011521305.1:p.Pro128Ser
XM_011523003.3:c.382C>T	XP_011521305.1:p.Pro128Ser
NM_020988.3:c.508C>T MANE Select	NP_066268.1:p.Pro170Ser
NM_138736.3:c.508C>T	NP_620073.2:p.Pro170Ser