Canonical Allele Identifier: CA495585943

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388851A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354939A>G , CM000678.2:g.56354939A>G	GRCh38
NC_000016.9:g.56388851A>G , CM000678.1:g.56388851A>G	GRCh37
NC_000016.8:g.54946352A>G	NCBI36
NG_042800.1:g.168601A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.951A>G MANE Select	ENSP00000262493.6:p.Lys317=
ENST00000562316.6:c.545-1164A>G	ENSP00000457238.2:n.545-1164A>G
ENST00000564727.2:c.255A>G	ENSP00000454971.2:p.Lys85=
ENST00000568375.2:c.189A>G
ENST00000638210.1:n.1251A>G
ENST00000638705.1:c.951A>G	ENSP00000491223.1:p.Lys317=
ENST00000638836.1:n.861A>G
ENST00000639055.1:n.1672A>G
ENST00000639251.1:n.852A>G
ENST00000639268.1:c.586A>G
ENST00000639341.1:c.476A>G
ENST00000639770.1:c.989A>G	ENSP00000491999.1:n.989A>G
ENST00000640390.1:n.881A>G
ENST00000640469.1:c.315A>G	ENSP00000491875.1:p.Lys105=
ENST00000640560.1:n.727A>G
ENST00000640893.1:c.*349A>G	ENSP00000492677.1:n.*349A>G
ENST00000262493.10:c.951A>G	ENSP00000262493.6:p.Lys317=
ENST00000564727.1:c.171A>G	ENSP00000454971.1:p.Lys57=
ENST00000568375.1:n.189A>G
NM_020988.2:c.951A>G	NP_066268.1:p.Lys317=
XM_011523003.1:c.825A>G	XP_011521305.1:p.Lys275=
XM_011523003.3:c.825A>G	XP_011521305.1:p.Lys275=
NM_020988.3:c.951A>G MANE Select	NP_066268.1:p.Lys317=