Canonical Allele Identifier: CA395954703

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385348T>G (hg19) ; chr16:g.56351436T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351436T>G , CM000678.2:g.56351436T>G	GRCh38
NC_000016.9:g.56385348T>G , CM000678.1:g.56385348T>G	GRCh37
NC_000016.8:g.54942849T>G	NCBI36
NG_042800.1:g.165098T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.776T>G MANE Select	ENSP00000262493.6:p.Phe259Cys
ENST00000562316.6:c.443T>G	ENSP00000457238.2:p.Phe148Cys
ENST00000564727.2:c.80T>G	ENSP00000454971.2:p.Phe27Cys
ENST00000568375.2:c.116-3430T>G
ENST00000638185.1:n.991T>G
ENST00000638210.1:n.1076T>G
ENST00000638705.1:c.776T>G	ENSP00000491223.1:p.Phe259Cys
ENST00000638836.1:n.686T>G
ENST00000639055.1:n.1497T>G
ENST00000639251.1:n.677T>G
ENST00000639268.1:c.411T>G
ENST00000639341.1:c.301T>G
ENST00000639770.1:c.814T>G	ENSP00000491999.1:n.814T>G
ENST00000640390.1:n.706T>G
ENST00000640469.1:c.140T>G	ENSP00000491875.1:p.Phe47Cys
ENST00000640560.1:n.552T>G
ENST00000640893.1:c.*174T>G	ENSP00000492677.1:n.*174T>G
ENST00000262493.10:c.776T>G	ENSP00000262493.6:p.Phe259Cys
ENST00000568375.1:n.116-3430T>G
NM_020988.2:c.776T>G	NP_066268.1:p.Phe259Cys
XM_011523003.1:c.650T>G	XP_011521305.1:p.Phe217Cys
XM_011523003.3:c.650T>G	XP_011521305.1:p.Phe217Cys
NM_020988.3:c.776T>G MANE Select	NP_066268.1:p.Phe259Cys