Canonical Allele Identifier: CA281439997

Gene: GNAO1

Linked Data

• dbSNP Id: rs112085622
• MyVariant Identifiers: chr16:g.56385362T>C (hg19) ; chr16:g.56351450T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351450T>C , CM000678.2:g.56351450T>C	GRCh38
NC_000016.9:g.56385362T>C , CM000678.1:g.56385362T>C	GRCh37
NC_000016.8:g.54942863T>C	NCBI36
NG_042800.1:g.165112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.790T>C MANE Select	ENSP00000262493.6:p.Ser264Pro
ENST00000562316.6:c.457T>C	ENSP00000457238.2:p.Ser153Pro
ENST00000564727.2:c.94T>C	ENSP00000454971.2:p.Ser32Pro
ENST00000568375.2:c.116-3416T>C
ENST00000638185.1:n.1005T>C
ENST00000638210.1:n.1090T>C
ENST00000638705.1:c.790T>C	ENSP00000491223.1:p.Ser264Pro
ENST00000638836.1:n.700T>C
ENST00000639055.1:n.1511T>C
ENST00000639251.1:n.691T>C
ENST00000639268.1:c.425T>C
ENST00000639341.1:c.315T>C
ENST00000639770.1:c.828T>C	ENSP00000491999.1:n.828T>C
ENST00000640390.1:n.720T>C
ENST00000640469.1:c.154T>C	ENSP00000491875.1:p.Ser52Pro
ENST00000640560.1:n.566T>C
ENST00000640893.1:c.*188T>C	ENSP00000492677.1:n.*188T>C
ENST00000262493.10:c.790T>C	ENSP00000262493.6:p.Ser264Pro
ENST00000564727.1:c.10T>C	ENSP00000454971.1:p.Ser4Pro
ENST00000568375.1:n.116-3416T>C
NM_020988.2:c.790T>C	NP_066268.1:p.Ser264Pro
XM_011523003.1:c.664T>C	XP_011521305.1:p.Ser222Pro
XM_011523003.3:c.664T>C	XP_011521305.1:p.Ser222Pro
NM_020988.3:c.790T>C MANE Select	NP_066268.1:p.Ser264Pro