Canonical Allele Identifier: CA395952425

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370770A>T (hg19) ; chr16:g.56336858A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336858A>T , CM000678.2:g.56336858A>T	GRCh38
NC_000016.9:g.56370770A>T , CM000678.1:g.56370770A>T	GRCh37
NC_000016.8:g.54928271A>T	NCBI36
NG_042800.1:g.150520A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.721A>T	ENSP00000262494.7:p.Thr241Ser
ENST00000262493.12:c.721A>T MANE Select	ENSP00000262493.6:p.Thr241Ser
ENST00000262494.12:c.721A>T	ENSP00000262494.7:p.Thr241Ser
ENST00000562316.6:c.388A>T	ENSP00000457238.2:p.Thr130Ser
ENST00000564727.2:c.25A>T	ENSP00000454971.2:p.Thr9Ser
ENST00000568375.2:c.113A>T
ENST00000638185.1:n.936A>T
ENST00000638210.1:n.1021A>T
ENST00000638705.1:c.721A>T	ENSP00000491223.1:p.Thr241Ser
ENST00000638836.1:n.631A>T
ENST00000639055.1:n.1442A>T
ENST00000639251.1:n.622A>T
ENST00000639268.1:c.356A>T
ENST00000639341.1:c.246A>T
ENST00000639770.1:c.759A>T	ENSP00000491999.1:n.759A>T
ENST00000640390.1:n.651A>T
ENST00000640469.1:c.85A>T	ENSP00000491875.1:p.Thr29Ser
ENST00000640560.1:n.497A>T
ENST00000640893.1:c.*119A>T	ENSP00000492677.1:n.*119A>T
ENST00000262493.10:c.721A>T	ENSP00000262493.6:p.Thr241Ser
ENST00000262494.11:c.721A>T	ENSP00000262494.7:p.Thr241Ser
ENST00000568375.1:n.113A>T
NM_020988.2:c.721A>T	NP_066268.1:p.Thr241Ser
NM_138736.2:c.721A>T	NP_620073.2:p.Thr241Ser
XM_011523003.1:c.595A>T	XP_011521305.1:p.Thr199Ser
XM_011523003.3:c.595A>T	XP_011521305.1:p.Thr199Ser
NM_020988.3:c.721A>T MANE Select	NP_066268.1:p.Thr241Ser
NM_138736.3:c.721A>T	NP_620073.2:p.Thr241Ser