Canonical Allele Identifier: CA395954782

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385383A>C (hg19) ; chr16:g.56351471A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351471A>C , CM000678.2:g.56351471A>C	GRCh38
NC_000016.9:g.56385383A>C , CM000678.1:g.56385383A>C	GRCh37
NC_000016.8:g.54942884A>C	NCBI36
NG_042800.1:g.165133A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.811A>C MANE Select	ENSP00000262493.6:p.Lys271Gln
ENST00000562316.6:c.478A>C	ENSP00000457238.2:p.Lys160Gln
ENST00000564727.2:c.115A>C	ENSP00000454971.2:p.Lys39Gln
ENST00000568375.2:c.116-3395A>C
ENST00000638185.1:n.1026A>C
ENST00000638210.1:n.1111A>C
ENST00000638705.1:c.811A>C	ENSP00000491223.1:p.Lys271Gln
ENST00000638836.1:n.721A>C
ENST00000639055.1:n.1532A>C
ENST00000639251.1:n.712A>C
ENST00000639268.1:c.446A>C
ENST00000639341.1:c.336A>C
ENST00000639770.1:c.849A>C	ENSP00000491999.1:n.849A>C
ENST00000640390.1:n.741A>C
ENST00000640469.1:c.175A>C	ENSP00000491875.1:p.Lys59Gln
ENST00000640560.1:n.587A>C
ENST00000640893.1:c.*209A>C	ENSP00000492677.1:n.*209A>C
ENST00000262493.10:c.811A>C	ENSP00000262493.6:p.Lys271Gln
ENST00000564727.1:c.31A>C	ENSP00000454971.1:p.Lys11Gln
ENST00000568375.1:n.116-3395A>C
NM_020988.2:c.811A>C	NP_066268.1:p.Lys271Gln
XM_011523003.1:c.685A>C	XP_011521305.1:p.Lys229Gln
XM_011523003.3:c.685A>C	XP_011521305.1:p.Lys229Gln
NM_020988.3:c.811A>C MANE Select	NP_066268.1:p.Lys271Gln