Canonical Allele Identifier: CA395955094

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388840T>C (hg19) ; chr16:g.56354928T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354928T>C , CM000678.2:g.56354928T>C	GRCh38
NC_000016.9:g.56388840T>C , CM000678.1:g.56388840T>C	GRCh37
NC_000016.8:g.54946341T>C	NCBI36
NG_042800.1:g.168590T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.940T>C MANE Select	ENSP00000262493.6:p.Ser314Pro
ENST00000562316.6:c.545-1175T>C	ENSP00000457238.2:n.545-1175T>C
ENST00000564727.2:c.244T>C	ENSP00000454971.2:p.Ser82Pro
ENST00000568375.2:c.178T>C
ENST00000638185.1:n.1155T>C
ENST00000638210.1:n.1240T>C
ENST00000638705.1:c.940T>C	ENSP00000491223.1:p.Ser314Pro
ENST00000638836.1:n.850T>C
ENST00000639055.1:n.1661T>C
ENST00000639251.1:n.841T>C
ENST00000639268.1:c.575T>C
ENST00000639341.1:c.465T>C
ENST00000639770.1:c.978T>C	ENSP00000491999.1:n.978T>C
ENST00000640390.1:n.870T>C
ENST00000640469.1:c.304T>C	ENSP00000491875.1:p.Ser102Pro
ENST00000640560.1:n.716T>C
ENST00000640893.1:c.*338T>C	ENSP00000492677.1:n.*338T>C
ENST00000262493.10:c.940T>C	ENSP00000262493.6:p.Ser314Pro
ENST00000564727.1:c.160T>C	ENSP00000454971.1:p.Ser54Pro
ENST00000568375.1:n.178T>C
NM_020988.2:c.940T>C	NP_066268.1:p.Ser314Pro
XM_011523003.1:c.814T>C	XP_011521305.1:p.Ser272Pro
XM_011523003.3:c.814T>C	XP_011521305.1:p.Ser272Pro
NM_020988.3:c.940T>C MANE Select	NP_066268.1:p.Ser314Pro