Canonical Allele Identifier: CA395955047

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388820A>T (hg19) ; chr16:g.56354908A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354908A>T , CM000678.2:g.56354908A>T	GRCh38
NC_000016.9:g.56388820A>T , CM000678.1:g.56388820A>T	GRCh37
NC_000016.8:g.54946321A>T	NCBI36
NG_042800.1:g.168570A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.920A>T MANE Select	ENSP00000262493.6:p.Gln307Leu
ENST00000562316.6:c.545-1195A>T	ENSP00000457238.2:n.545-1195A>T
ENST00000564727.2:c.224A>T	ENSP00000454971.2:p.Gln75Leu
ENST00000568375.2:c.158A>T
ENST00000638185.1:n.1135A>T
ENST00000638210.1:n.1220A>T
ENST00000638705.1:c.920A>T	ENSP00000491223.1:p.Gln307Leu
ENST00000638836.1:n.830A>T
ENST00000639055.1:n.1641A>T
ENST00000639251.1:n.821A>T
ENST00000639268.1:c.555A>T
ENST00000639341.1:c.445A>T
ENST00000639770.1:c.958A>T	ENSP00000491999.1:n.958A>T
ENST00000640390.1:n.850A>T
ENST00000640469.1:c.284A>T	ENSP00000491875.1:p.Gln95Leu
ENST00000640560.1:n.696A>T
ENST00000640893.1:c.*318A>T	ENSP00000492677.1:n.*318A>T
ENST00000262493.10:c.920A>T	ENSP00000262493.6:p.Gln307Leu
ENST00000564727.1:c.140A>T	ENSP00000454971.1:p.Gln47Leu
ENST00000568375.1:n.158A>T
NM_020988.2:c.920A>T	NP_066268.1:p.Gln307Leu
XM_011523003.1:c.794A>T	XP_011521305.1:p.Gln265Leu
XM_011523003.3:c.794A>T	XP_011521305.1:p.Gln265Leu
NM_020988.3:c.920A>T MANE Select	NP_066268.1:p.Gln307Leu