Canonical Allele Identifier: CA495585882

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56354867-C-T
• MyVariant Identifiers: chr16:g.56388779C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354867C>T , CM000678.2:g.56354867C>T	GRCh38
NC_000016.9:g.56388779C>T , CM000678.1:g.56388779C>T	GRCh37
NC_000016.8:g.54946280C>T	NCBI36
NG_042800.1:g.168529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.879C>T MANE Select	ENSP00000262493.6:p.Gly293=
ENST00000562316.6:c.545-1236C>T	ENSP00000457238.2:n.545-1236C>T
ENST00000564727.2:c.183C>T	ENSP00000454971.2:p.Gly61=
ENST00000568375.2:c.117C>T
ENST00000638185.1:n.1094C>T
ENST00000638210.1:n.1179C>T
ENST00000638705.1:c.879C>T	ENSP00000491223.1:p.Gly293=
ENST00000638836.1:n.789C>T
ENST00000639055.1:n.1600C>T
ENST00000639251.1:n.780C>T
ENST00000639268.1:c.514C>T
ENST00000639341.1:c.404C>T
ENST00000639770.1:c.917C>T	ENSP00000491999.1:n.917C>T
ENST00000640390.1:n.809C>T
ENST00000640469.1:c.243C>T	ENSP00000491875.1:p.Gly81=
ENST00000640560.1:n.655C>T
ENST00000640893.1:c.*277C>T	ENSP00000492677.1:n.*277C>T
ENST00000262493.10:c.879C>T	ENSP00000262493.6:p.Gly293=
ENST00000564727.1:c.99C>T	ENSP00000454971.1:p.Gly33=
ENST00000568375.1:n.117C>T
NM_020988.2:c.879C>T	NP_066268.1:p.Gly293=
XM_011523003.1:c.753C>T	XP_011521305.1:p.Gly251=
XM_011523003.3:c.753C>T	XP_011521305.1:p.Gly251=
NM_020988.3:c.879C>T MANE Select	NP_066268.1:p.Gly293=