Canonical Allele Identifier: CA408966120

Gene: RIPOR3

Linked Data

• MyVariant Identifiers: chr20:g.49247310G>T (hg19) ; chr20:g.50630773G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.50630773G>T , CM000682.2:g.50630773G>T	GRCh38
NC_000020.10:g.49247310G>T , CM000682.1:g.49247310G>T	GRCh37
NC_000020.9:g.48680717G>T	NCBI36
NG_034040.1:g.65758C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327979.8:c.87C>A MANE Select	ENSP00000332663.3:p.Phe29Leu
ENST00000045083.6:c.75C>A	ENSP00000045083.2:p.Phe25Leu
ENST00000327979.6:c.75C>A	ENSP00000332663.2:p.Phe25Leu
ENST00000462493.1:n.393C>A
NM_001290268.1:c.87C>A	NP_001277197.1:p.Phe29Leu
NM_080829.3:c.75C>A	NP_543019.2:p.Phe25Leu
NR_110890.1:n.674C>A
XM_005260294.3:c.87C>A	XP_005260351.1:p.Phe29Leu
XM_006723713.2:c.87C>A	XP_006723776.1:p.Phe29Leu
XM_011528578.1:c.87C>A	XP_011526880.1:p.Phe29Leu
XM_011528579.1:c.75C>A	XP_011526881.1:p.Phe25Leu
XM_011528580.1:c.75C>A	XP_011526882.1:p.Phe25Leu
XM_011528581.1:c.75C>A	XP_011526883.1:p.Phe25Leu
XM_011528583.1:c.87C>A	XP_011526885.1:p.Phe29Leu
XM_011528584.1:c.87C>A	XP_011526886.1:p.Phe29Leu
XM_011528586.1:c.87C>A	XP_011526888.1:p.Phe29Leu
XR_936505.1:n.558C>A
XR_936506.1:n.559C>A
XM_006723713.4:c.87C>A	XP_006723776.1:p.Phe29Leu
XM_011528578.2:c.87C>A	XP_011526880.1:p.Phe29Leu
XM_011528579.2:c.75C>A	XP_011526881.1:p.Phe25Leu
XM_011528580.2:c.75C>A	XP_011526882.1:p.Phe25Leu
XM_011528581.2:c.75C>A	XP_011526883.1:p.Phe25Leu
XM_011528584.3:c.87C>A	XP_011526886.1:p.Phe29Leu
XM_011528586.2:c.87C>A	XP_011526888.1:p.Phe29Leu
XM_017027682.2:c.87C>A	XP_016883171.1:p.Phe29Leu
XR_001754183.1:n.551C>A
XR_936505.2:n.551C>A
XR_936506.3:n.552C>A
NM_001290268.2:c.87C>A MANE Select	NP_001277197.1:p.Phe29Leu
NR_110890.2:n.686C>A
NM_080829.4:c.75C>A	NP_543019.2:p.Phe25Leu