Canonical Allele Identifier: CA395954572

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351386-C-G
• MyVariant Identifiers: chr16:g.56385298C>G (hg19) ; chr16:g.56351386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351386C>G , CM000678.2:g.56351386C>G	GRCh38
NC_000016.9:g.56385298C>G , CM000678.1:g.56385298C>G	GRCh37
NC_000016.8:g.54942799C>G	NCBI36
NG_042800.1:g.165048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.726C>G MANE Select	ENSP00000262493.6:p.Asn242Lys
ENST00000562316.6:c.393C>G	ENSP00000457238.2:p.Asn131Lys
ENST00000564727.2:c.30C>G	ENSP00000454971.2:p.Asn10Lys
ENST00000568375.2:c.116-3480C>G
ENST00000638185.1:n.941C>G
ENST00000638210.1:n.1026C>G
ENST00000638705.1:c.726C>G	ENSP00000491223.1:p.Asn242Lys
ENST00000638836.1:n.636C>G
ENST00000639055.1:n.1447C>G
ENST00000639251.1:n.627C>G
ENST00000639268.1:c.361C>G
ENST00000639341.1:c.251C>G
ENST00000639770.1:c.764C>G	ENSP00000491999.1:n.764C>G
ENST00000640390.1:n.656C>G
ENST00000640469.1:c.90C>G	ENSP00000491875.1:p.Asn30Lys
ENST00000640560.1:n.502C>G
ENST00000640893.1:c.*124C>G	ENSP00000492677.1:n.*124C>G
ENST00000262493.10:c.726C>G	ENSP00000262493.6:p.Asn242Lys
ENST00000568375.1:n.116-3480C>G
NM_020988.2:c.726C>G	NP_066268.1:p.Asn242Lys
XM_011523003.1:c.600C>G	XP_011521305.1:p.Asn200Lys
XM_011523003.3:c.600C>G	XP_011521305.1:p.Asn200Lys
NM_020988.3:c.726C>G MANE Select	NP_066268.1:p.Asn242Lys