Canonical Allele Identifier: CA395953448

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 495256
• ClinVar RCV Id: RCV000585823
• dbSNP Id: rs539641021
• gnomAD v3: 16-56343786-G-C
• gnomAD v4: 16-56343786-G-C
• MyVariant Identifiers: chr16:g.56377698G>C (hg19) ; chr16:g.56343786G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56343786G>C , CM000678.2:g.56343786G>C	GRCh38
NC_000016.9:g.56377698G>C , CM000678.1:g.56377698G>C	GRCh37
NC_000016.8:g.54935199G>C	NCBI36
NG_042800.1:g.157448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.901G>C	ENSP00000262494.7:p.Val301Leu
ENST00000262493.12:c.723+6926G>C MANE Select	ENSP00000262493.6:n.723+6926G>C
ENST00000262494.12:c.901G>C	ENSP00000262494.7:p.Val301Leu
ENST00000562316.6:c.390+6926G>C	ENSP00000457238.2:n.390+6926G>C
ENST00000564727.2:c.27+6926G>C	ENSP00000454971.2:n.27+6926G>C
ENST00000564798.2:n.716G>C
ENST00000568375.2:c.115+6926G>C
ENST00000638185.1:n.938+6926G>C
ENST00000638210.1:n.1023+6926G>C
ENST00000638705.1:c.723+6926G>C	ENSP00000491223.1:n.723+6926G>C
ENST00000638836.1:n.633+6926G>C
ENST00000639055.1:n.1444+6926G>C
ENST00000639251.1:n.624+6926G>C
ENST00000639268.1:c.358+6926G>C
ENST00000639341.1:c.248+6926G>C
ENST00000639770.1:c.761+6926G>C	ENSP00000491999.1:n.761+6926G>C
ENST00000639787.1:n.246G>C
ENST00000640390.1:n.653+6926G>C
ENST00000640469.1:c.87+6926G>C	ENSP00000491875.1:n.87+6926G>C
ENST00000640560.1:n.499+6926G>C
ENST00000640893.1:c.*121+6926G>C	ENSP00000492677.1:n.*121+6926G>C
ENST00000262493.10:c.723+6926G>C	ENSP00000262493.6:n.723+6926G>C
ENST00000262494.11:c.901G>C	ENSP00000262494.7:p.Val301Leu
ENST00000564798.1:n.716G>C
ENST00000568375.1:n.115+6926G>C
NM_020988.2:c.723+6926G>C	NP_066268.1:n.723+6926G>C
NM_138736.2:c.901G>C	NP_620073.2:p.Val301Leu
XM_011523003.1:c.597+6926G>C	XP_011521305.1:n.597+6926G>C
XM_011523003.3:c.597+6926G>C	XP_011521305.1:n.597+6926G>C
NM_020988.3:c.723+6926G>C MANE Select	NP_066268.1:n.723+6926G>C
NM_138736.3:c.901G>C	NP_620073.2:p.Val301Leu