Canonical Allele Identifier: CA395951601

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56368720A>T (hg19) ; chr16:g.56334808A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56334808A>T , CM000678.2:g.56334808A>T	GRCh38
NC_000016.9:g.56368720A>T , CM000678.1:g.56368720A>T	GRCh37
NC_000016.8:g.54926221A>T	NCBI36
NG_042800.1:g.148470A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.544A>T	ENSP00000262494.7:p.Thr182Ser
ENST00000262493.12:c.544A>T MANE Select	ENSP00000262493.6:p.Thr182Ser
ENST00000262494.12:c.544A>T	ENSP00000262494.7:p.Thr182Ser
ENST00000562316.6:c.211A>T	ENSP00000457238.2:p.Thr71Ser
ENST00000638185.1:n.759A>T
ENST00000638210.1:n.844A>T
ENST00000638705.1:c.544A>T	ENSP00000491223.1:p.Thr182Ser
ENST00000638836.1:n.454A>T
ENST00000639055.1:n.1265A>T
ENST00000639251.1:n.445A>T
ENST00000639268.1:c.229-1923A>T
ENST00000639341.1:c.69A>T
ENST00000639770.1:c.582A>T	ENSP00000491999.1:n.582A>T
ENST00000640390.1:n.474A>T
ENST00000640893.1:c.383A>T	ENSP00000492677.1:p.Asn128Ile
ENST00000262493.10:c.544A>T	ENSP00000262493.6:p.Thr182Ser
ENST00000262494.11:c.544A>T	ENSP00000262494.7:p.Thr182Ser
ENST00000562316.5:c.283A>T	ENSP00000457238.1:p.Thr95Ser
NM_020988.2:c.544A>T	NP_066268.1:p.Thr182Ser
NM_138736.2:c.544A>T	NP_620073.2:p.Thr182Ser
XM_011523003.1:c.418A>T	XP_011521305.1:p.Thr140Ser
XM_011523003.3:c.418A>T	XP_011521305.1:p.Thr140Ser
NM_020988.3:c.544A>T MANE Select	NP_066268.1:p.Thr182Ser
NM_138736.3:c.544A>T	NP_620073.2:p.Thr182Ser