Canonical Allele Identifier: CA395954629

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385319G>C (hg19) ; chr16:g.56351407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351407G>C , CM000678.2:g.56351407G>C	GRCh38
NC_000016.9:g.56385319G>C , CM000678.1:g.56385319G>C	GRCh37
NC_000016.8:g.54942820G>C	NCBI36
NG_042800.1:g.165069G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.747G>C MANE Select	ENSP00000262493.6:p.Met249Ile
ENST00000562316.6:c.414G>C	ENSP00000457238.2:p.Met138Ile
ENST00000564727.2:c.51G>C	ENSP00000454971.2:p.Met17Ile
ENST00000568375.2:c.116-3459G>C
ENST00000638185.1:n.962G>C
ENST00000638210.1:n.1047G>C
ENST00000638705.1:c.747G>C	ENSP00000491223.1:p.Met249Ile
ENST00000638836.1:n.657G>C
ENST00000639055.1:n.1468G>C
ENST00000639251.1:n.648G>C
ENST00000639268.1:c.382G>C
ENST00000639341.1:c.272G>C
ENST00000639770.1:c.785G>C	ENSP00000491999.1:n.785G>C
ENST00000640390.1:n.677G>C
ENST00000640469.1:c.111G>C	ENSP00000491875.1:p.Met37Ile
ENST00000640560.1:n.523G>C
ENST00000640893.1:c.*145G>C	ENSP00000492677.1:n.*145G>C
ENST00000262493.10:c.747G>C	ENSP00000262493.6:p.Met249Ile
ENST00000568375.1:n.116-3459G>C
NM_020988.2:c.747G>C	NP_066268.1:p.Met249Ile
XM_011523003.1:c.621G>C	XP_011521305.1:p.Met207Ile
XM_011523003.3:c.621G>C	XP_011521305.1:p.Met207Ile
NM_020988.3:c.747G>C MANE Select	NP_066268.1:p.Met249Ile