Canonical Allele Identifier: CA174806

Gene: RIPOR3

Linked Data

• ClinVar Variation Id: 161799
• ClinVar RCV Id: RCV000149335 ; RCV003242989
• dbSNP Id: rs141033220
• ExAC: 20:49247330 C / T
• gnomAD v2: 20-49247330-C-T
• gnomAD v3: 20-50630793-C-T
• gnomAD v4: 20-50630793-C-T
• COSMIC: COSM1178724
• MyVariant Identifiers: chr20:g.49247330C>T (hg19) ; chr20:g.50630793C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50630793C>T , CM000682.2:g.50630793C>T	GRCh38
NC_000020.10:g.49247330C>T , CM000682.1:g.49247330C>T	GRCh37
NC_000020.9:g.48680737C>T	NCBI36
NG_034040.1:g.65738G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000327979.8:c.67G>A MANE Select	ENSP00000332663.3:p.Val23Met
ENST00000045083.6:c.55G>A	ENSP00000045083.2:p.Val19Met
ENST00000327979.6:c.55G>A	ENSP00000332663.2:p.Val19Met
ENST00000462493.1:n.373G>A
NM_001290268.1:c.67G>A	NP_001277197.1:p.Val23Met
NM_080829.3:c.55G>A	NP_543019.2:p.Val19Met
NR_110890.1:n.654G>A
XM_005260294.3:c.67G>A	XP_005260351.1:p.Val23Met
XM_006723713.2:c.67G>A	XP_006723776.1:p.Val23Met
XM_011528578.1:c.67G>A	XP_011526880.1:p.Val23Met
XM_011528579.1:c.55G>A	XP_011526881.1:p.Val19Met
XM_011528580.1:c.55G>A	XP_011526882.1:p.Val19Met
XM_011528581.1:c.55G>A	XP_011526883.1:p.Val19Met
XM_011528583.1:c.67G>A	XP_011526885.1:p.Val23Met
XM_011528584.1:c.67G>A	XP_011526886.1:p.Val23Met
XM_011528586.1:c.67G>A	XP_011526888.1:p.Val23Met
XR_936505.1:n.538G>A
XR_936506.1:n.539G>A
XM_006723713.4:c.67G>A	XP_006723776.1:p.Val23Met
XM_011528578.2:c.67G>A	XP_011526880.1:p.Val23Met
XM_011528579.2:c.55G>A	XP_011526881.1:p.Val19Met
XM_011528580.2:c.55G>A	XP_011526882.1:p.Val19Met
XM_011528581.2:c.55G>A	XP_011526883.1:p.Val19Met
XM_011528584.3:c.67G>A	XP_011526886.1:p.Val23Met
XM_011528586.2:c.67G>A	XP_011526888.1:p.Val23Met
XM_017027682.2:c.67G>A	XP_016883171.1:p.Val23Met
XR_001754183.1:n.531G>A
XR_936505.2:n.531G>A
XR_936506.3:n.532G>A
NM_001290268.2:c.67G>A MANE Select	NP_001277197.1:p.Val23Met
NR_110890.2:n.666G>A
NM_080829.4:c.55G>A	NP_543019.2:p.Val19Met