Canonical Allele Identifier: CA395954593

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385304G>A (hg19) ; chr16:g.56351392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351392G>A , CM000678.2:g.56351392G>A	GRCh38
NC_000016.9:g.56385304G>A , CM000678.1:g.56385304G>A	GRCh37
NC_000016.8:g.54942805G>A	NCBI36
NG_042800.1:g.165054G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.732G>A MANE Select	ENSP00000262493.6:p.Met244Ile
ENST00000562316.6:c.399G>A	ENSP00000457238.2:p.Met133Ile
ENST00000564727.2:c.36G>A	ENSP00000454971.2:p.Met12Ile
ENST00000568375.2:c.116-3474G>A
ENST00000638185.1:n.947G>A
ENST00000638210.1:n.1032G>A
ENST00000638705.1:c.732G>A	ENSP00000491223.1:p.Met244Ile
ENST00000638836.1:n.642G>A
ENST00000639055.1:n.1453G>A
ENST00000639251.1:n.633G>A
ENST00000639268.1:c.367G>A
ENST00000639341.1:c.257G>A
ENST00000639770.1:c.770G>A	ENSP00000491999.1:n.770G>A
ENST00000640390.1:n.662G>A
ENST00000640469.1:c.96G>A	ENSP00000491875.1:p.Met32Ile
ENST00000640560.1:n.508G>A
ENST00000640893.1:c.*130G>A	ENSP00000492677.1:n.*130G>A
ENST00000262493.10:c.732G>A	ENSP00000262493.6:p.Met244Ile
ENST00000568375.1:n.116-3474G>A
NM_020988.2:c.732G>A	NP_066268.1:p.Met244Ile
XM_011523003.1:c.606G>A	XP_011521305.1:p.Met202Ile
XM_011523003.3:c.606G>A	XP_011521305.1:p.Met202Ile
NM_020988.3:c.732G>A MANE Select	NP_066268.1:p.Met244Ile