Canonical Allele Identifier: CA8064001

Gene: GNAO1

Linked Data

• dbSNP Id: rs748772075
• ExAC: 16:56385422 T / C
• gnomAD v2: 16-56385422-T-C
• gnomAD v4: 16-56351510-T-C
• MyVariant Identifiers: chr16:g.56385422T>C (hg19) ; chr16:g.56351510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351510T>C , CM000678.2:g.56351510T>C	GRCh38
NC_000016.9:g.56385422T>C , CM000678.1:g.56385422T>C	GRCh37
NC_000016.8:g.54942923T>C	NCBI36
NG_042800.1:g.165172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.850T>C MANE Select	ENSP00000262493.6:p.Leu284=
ENST00000562316.6:c.517T>C	ENSP00000457238.2:p.Leu173=
ENST00000564727.2:c.154T>C	ENSP00000454971.2:p.Leu52=
ENST00000568375.2:c.116-3356T>C
ENST00000638185.1:n.1065T>C
ENST00000638210.1:n.1150T>C
ENST00000638705.1:c.850T>C	ENSP00000491223.1:p.Leu284=
ENST00000638836.1:n.760T>C
ENST00000639055.1:n.1571T>C
ENST00000639251.1:n.751T>C
ENST00000639268.1:c.485T>C
ENST00000639341.1:c.375T>C
ENST00000639770.1:c.888T>C	ENSP00000491999.1:n.888T>C
ENST00000640390.1:n.780T>C
ENST00000640469.1:c.214T>C	ENSP00000491875.1:p.Leu72=
ENST00000640560.1:n.626T>C
ENST00000640893.1:c.*248T>C	ENSP00000492677.1:n.*248T>C
ENST00000262493.10:c.850T>C	ENSP00000262493.6:p.Leu284=
ENST00000564727.1:c.70T>C	ENSP00000454971.1:p.Leu24=
ENST00000568375.1:n.116-3356T>C
NM_020988.2:c.850T>C	NP_066268.1:p.Leu284=
XM_011523003.1:c.724T>C	XP_011521305.1:p.Leu242=
XM_011523003.3:c.724T>C	XP_011521305.1:p.Leu242=
NM_020988.3:c.850T>C MANE Select	NP_066268.1:p.Leu284=