Canonical Allele Identifier: CA1004880641

Gene: PLPPR5

Linked Data

• dbSNP Id: rs1652307669
• gnomAD v3: 1-98987743-C-G
• gnomAD v4: 1-98987743-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.98987743C>G , CM000663.2:g.98987743C>G	GRCh38
NC_000001.10:g.99453299C>G , CM000663.1:g.99453299C>G	GRCh37
NC_000001.9:g.99225887C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696571.1:c.73-31002G>C	ENSP00000512726.1:n.73-31002G>C
ENST00000263177.5:c.237+16692G>C MANE Select	ENSP00000263177.4:n.237+16692G>C
ENST00000672681.1:c.237+16692G>C	ENSP00000500930.1:n.237+16692G>C
ENST00000263177.4:c.237+16692G>C	ENSP00000263177.4:n.237+16692G>C
ENST00000370188.7:c.237+16692G>C	ENSP00000359207.3:n.237+16692G>C
NM_001010861.2:c.237+16692G>C	NP_001010861.1:n.237+16692G>C
NM_001037317.1:c.237+16692G>C	NP_001032394.1:n.237+16692G>C
XM_011540836.1:c.237+16692G>C	XP_011539138.1:n.237+16692G>C
XM_011540837.1:c.237+16692G>C	XP_011539139.1:n.237+16692G>C
XM_011540838.1:c.189+16692G>C	XP_011539140.1:n.189+16692G>C
XM_011540839.1:c.189+16692G>C	XP_011539141.1:n.189+16692G>C
XM_011540836.2:c.237+16692G>C	XP_011539138.1:n.237+16692G>C
XM_011540838.3:c.189+16692G>C	XP_011539140.1:n.189+16692G>C
NM_001037317.2:c.237+16692G>C MANE Select	NP_001032394.1:n.237+16692G>C
NM_001010861.3:c.237+16692G>C	NP_001010861.1:n.237+16692G>C