Canonical Allele Identifier: CA16043017

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 373477
• ClinVar RCV Id: RCV000414640
• dbSNP Id: rs1057518440
• MyVariant Identifiers: chr16:g.56370669C>A (hg19) ; chr16:g.56336757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336757C>A , CM000678.2:g.56336757C>A	GRCh38
NC_000016.9:g.56370669C>A , CM000678.1:g.56370669C>A	GRCh37
NC_000016.8:g.54928170C>A	NCBI36
NG_042800.1:g.150419C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.620C>A	ENSP00000262494.7:p.Ser207Tyr
ENST00000262493.12:c.620C>A MANE Select	ENSP00000262493.6:p.Ser207Tyr
ENST00000262494.12:c.620C>A	ENSP00000262494.7:p.Ser207Tyr
ENST00000562316.6:c.287C>A	ENSP00000457238.2:p.Ser96Tyr
ENST00000568375.2:c.12C>A
ENST00000638185.1:n.835C>A
ENST00000638210.1:n.920C>A
ENST00000638705.1:c.620C>A	ENSP00000491223.1:p.Ser207Tyr
ENST00000638836.1:n.530C>A
ENST00000639055.1:n.1341C>A
ENST00000639251.1:n.521C>A
ENST00000639268.1:c.255C>A
ENST00000639341.1:c.145C>A
ENST00000639770.1:c.658C>A	ENSP00000491999.1:n.658C>A
ENST00000640390.1:n.550C>A
ENST00000640560.1:n.396C>A
ENST00000640893.1:c.*18C>A	ENSP00000492677.1:n.*18C>A
ENST00000262493.10:c.620C>A	ENSP00000262493.6:p.Ser207Tyr
ENST00000262494.11:c.620C>A	ENSP00000262494.7:p.Ser207Tyr
ENST00000568375.1:n.12C>A
NM_020988.2:c.620C>A	NP_066268.1:p.Ser207Tyr
NM_138736.2:c.620C>A	NP_620073.2:p.Ser207Tyr
XM_011523003.1:c.494C>A	XP_011521305.1:p.Ser165Tyr
XM_011523003.3:c.494C>A	XP_011521305.1:p.Ser165Tyr
NM_020988.3:c.620C>A MANE Select	NP_066268.1:p.Ser207Tyr
NM_138736.3:c.620C>A	NP_620073.2:p.Ser207Tyr