Canonical Allele Identifier: CA395952391

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370756A>T (hg19) ; chr16:g.56336844A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336844A>T , CM000678.2:g.56336844A>T	GRCh38
NC_000016.9:g.56370756A>T , CM000678.1:g.56370756A>T	GRCh37
NC_000016.8:g.54928257A>T	NCBI36
NG_042800.1:g.150506A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262494.13:c.707A>T	ENSP00000262494.7:p.His236Leu
ENST00000262493.12:c.707A>T MANE Select	ENSP00000262493.6:p.His236Leu
ENST00000262494.12:c.707A>T	ENSP00000262494.7:p.His236Leu
ENST00000562316.6:c.374A>T	ENSP00000457238.2:p.His125Leu
ENST00000564727.2:c.11A>T	ENSP00000454971.2:p.His4Leu
ENST00000568375.2:c.99A>T
ENST00000638185.1:n.922A>T
ENST00000638210.1:n.1007A>T
ENST00000638705.1:c.707A>T	ENSP00000491223.1:p.His236Leu
ENST00000638836.1:n.617A>T
ENST00000639055.1:n.1428A>T
ENST00000639251.1:n.608A>T
ENST00000639268.1:c.342A>T
ENST00000639341.1:c.232A>T
ENST00000639770.1:c.745A>T	ENSP00000491999.1:n.745A>T
ENST00000640390.1:n.637A>T
ENST00000640469.1:c.71A>T	ENSP00000491875.1:p.His24Leu
ENST00000640560.1:n.483A>T
ENST00000640893.1:c.*105A>T	ENSP00000492677.1:n.*105A>T
ENST00000262493.10:c.707A>T	ENSP00000262493.6:p.His236Leu
ENST00000262494.11:c.707A>T	ENSP00000262494.7:p.His236Leu
ENST00000568375.1:n.99A>T
NM_020988.2:c.707A>T	NP_066268.1:p.His236Leu
NM_138736.2:c.707A>T	NP_620073.2:p.His236Leu
XM_011523003.1:c.581A>T	XP_011521305.1:p.His194Leu
XM_011523003.3:c.581A>T	XP_011521305.1:p.His194Leu
NM_020988.3:c.707A>T MANE Select	NP_066268.1:p.His236Leu
NM_138736.3:c.707A>T	NP_620073.2:p.His236Leu