Canonical Allele Identifier: CA395954627

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385318T>G (hg19) ; chr16:g.56351406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351406T>G , CM000678.2:g.56351406T>G	GRCh38
NC_000016.9:g.56385318T>G , CM000678.1:g.56385318T>G	GRCh37
NC_000016.8:g.54942819T>G	NCBI36
NG_042800.1:g.165068T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.746T>G MANE Select	ENSP00000262493.6:p.Met249Arg
ENST00000562316.6:c.413T>G	ENSP00000457238.2:p.Met138Arg
ENST00000564727.2:c.50T>G	ENSP00000454971.2:p.Met17Arg
ENST00000568375.2:c.116-3460T>G
ENST00000638185.1:n.961T>G
ENST00000638210.1:n.1046T>G
ENST00000638705.1:c.746T>G	ENSP00000491223.1:p.Met249Arg
ENST00000638836.1:n.656T>G
ENST00000639055.1:n.1467T>G
ENST00000639251.1:n.647T>G
ENST00000639268.1:c.381T>G
ENST00000639341.1:c.271T>G
ENST00000639770.1:c.784T>G	ENSP00000491999.1:n.784T>G
ENST00000640390.1:n.676T>G
ENST00000640469.1:c.110T>G	ENSP00000491875.1:p.Met37Arg
ENST00000640560.1:n.522T>G
ENST00000640893.1:c.*144T>G	ENSP00000492677.1:n.*144T>G
ENST00000262493.10:c.746T>G	ENSP00000262493.6:p.Met249Arg
ENST00000568375.1:n.116-3460T>G
NM_020988.2:c.746T>G	NP_066268.1:p.Met249Arg
XM_011523003.1:c.620T>G	XP_011521305.1:p.Met207Arg
XM_011523003.3:c.620T>G	XP_011521305.1:p.Met207Arg
NM_020988.3:c.746T>G MANE Select	NP_066268.1:p.Met249Arg