Canonical Allele Identifier: CA8063827

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 241366
• ClinVar RCV Id: RCV000227315 ; RCV001668398 ; RCV002317773
• dbSNP Id: rs139322464
• ExAC: 16:56370703 C / T
• gnomAD v2: 16-56370703-C-T
• gnomAD v3: 16-56336791-C-T
• gnomAD v4: 16-56336791-C-T
• MyVariant Identifiers: chr16:g.56370703C>T (hg19) ; chr16:g.56336791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336791C>T , CM000678.2:g.56336791C>T	GRCh38
NC_000016.9:g.56370703C>T , CM000678.1:g.56370703C>T	GRCh37
NC_000016.8:g.54928204C>T	NCBI36
NG_042800.1:g.150453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.654C>T	ENSP00000262494.7:p.Asp218=
ENST00000262493.12:c.654C>T MANE Select	ENSP00000262493.6:p.Asp218=
ENST00000262494.12:c.654C>T	ENSP00000262494.7:p.Asp218=
ENST00000562316.6:c.321C>T	ENSP00000457238.2:p.Asp107=
ENST00000568375.2:c.46C>T
ENST00000638185.1:n.869C>T
ENST00000638210.1:n.954C>T
ENST00000638705.1:c.654C>T	ENSP00000491223.1:p.Asp218=
ENST00000638836.1:n.564C>T
ENST00000639055.1:n.1375C>T
ENST00000639251.1:n.555C>T
ENST00000639268.1:c.289C>T
ENST00000639341.1:c.179C>T
ENST00000639770.1:c.692C>T	ENSP00000491999.1:n.692C>T
ENST00000640390.1:n.584C>T
ENST00000640469.1:c.18C>T	ENSP00000491875.1:p.Asp6=
ENST00000640560.1:n.430C>T
ENST00000640893.1:c.*52C>T	ENSP00000492677.1:n.*52C>T
ENST00000262493.10:c.654C>T	ENSP00000262493.6:p.Asp218=
ENST00000262494.11:c.654C>T	ENSP00000262494.7:p.Asp218=
ENST00000568375.1:n.46C>T
NM_020988.2:c.654C>T	NP_066268.1:p.Asp218=
NM_138736.2:c.654C>T	NP_620073.2:p.Asp218=
XM_011523003.1:c.528C>T	XP_011521305.1:p.Asp176=
XM_011523003.3:c.528C>T	XP_011521305.1:p.Asp176=
NM_020988.3:c.654C>T MANE Select	NP_066268.1:p.Asp218=
NM_138736.3:c.654C>T	NP_620073.2:p.Asp218=