Canonical Allele Identifier: CA395952201

Gene: GNAO1

Linked Data

• ClinVar Variation Id: 431699
• ClinVar RCV Id: RCV000699557 ; RCV000655933
• dbSNP Id: rs797044878
• MyVariant Identifiers: chr16:g.56370675G>T (hg19) ; chr16:g.56336763G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336763G>T , CM000678.2:g.56336763G>T	GRCh38
NC_000016.9:g.56370675G>T , CM000678.1:g.56370675G>T	GRCh37
NC_000016.8:g.54928176G>T	NCBI36
NG_042800.1:g.150425G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.626G>T	ENSP00000262494.7:p.Arg209Leu
ENST00000262493.12:c.626G>T MANE Select	ENSP00000262493.6:p.Arg209Leu
ENST00000262494.12:c.626G>T	ENSP00000262494.7:p.Arg209Leu
ENST00000562316.6:c.293G>T	ENSP00000457238.2:p.Arg98Leu
ENST00000568375.2:c.18G>T
ENST00000638185.1:n.841G>T
ENST00000638210.1:n.926G>T
ENST00000638705.1:c.626G>T	ENSP00000491223.1:p.Arg209Leu
ENST00000638836.1:n.536G>T
ENST00000639055.1:n.1347G>T
ENST00000639251.1:n.527G>T
ENST00000639268.1:c.261G>T
ENST00000639341.1:c.151G>T
ENST00000639770.1:c.664G>T	ENSP00000491999.1:n.664G>T
ENST00000640390.1:n.556G>T
ENST00000640560.1:n.402G>T
ENST00000640893.1:c.*24G>T	ENSP00000492677.1:n.*24G>T
ENST00000262493.10:c.626G>T	ENSP00000262493.6:p.Arg209Leu
ENST00000262494.11:c.626G>T	ENSP00000262494.7:p.Arg209Leu
ENST00000568375.1:n.18G>T
NM_020988.2:c.626G>T	NP_066268.1:p.Arg209Leu
NM_138736.2:c.626G>T	NP_620073.2:p.Arg209Leu
XM_011523003.1:c.500G>T	XP_011521305.1:p.Arg167Leu
XM_011523003.3:c.500G>T	XP_011521305.1:p.Arg167Leu
NM_020988.3:c.626G>T MANE Select	NP_066268.1:p.Arg209Leu
NM_138736.3:c.626G>T	NP_620073.2:p.Arg209Leu