Canonical Allele Identifier: CA2552981292

Gene: PLPPR5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.98987806C>T , CM000663.2:g.98987806C>T	GRCh38
NC_000001.10:g.99453362C>T , CM000663.1:g.99453362C>T	GRCh37
NC_000001.9:g.99225950C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696571.1:c.73-31065G>A	ENSP00000512726.1:n.73-31065G>A
ENST00000263177.5:c.237+16629G>A MANE Select	ENSP00000263177.4:n.237+16629G>A
ENST00000672681.1:c.237+16629G>A	ENSP00000500930.1:n.237+16629G>A
ENST00000263177.4:c.237+16629G>A	ENSP00000263177.4:n.237+16629G>A
ENST00000370188.7:c.237+16629G>A	ENSP00000359207.3:n.237+16629G>A
NM_001010861.2:c.237+16629G>A	NP_001010861.1:n.237+16629G>A
NM_001037317.1:c.237+16629G>A	NP_001032394.1:n.237+16629G>A
XM_011540836.1:c.237+16629G>A	XP_011539138.1:n.237+16629G>A
XM_011540837.1:c.237+16629G>A	XP_011539139.1:n.237+16629G>A
XM_011540838.1:c.189+16629G>A	XP_011539140.1:n.189+16629G>A
XM_011540839.1:c.189+16629G>A	XP_011539141.1:n.189+16629G>A
XM_011540836.2:c.237+16629G>A	XP_011539138.1:n.237+16629G>A
XM_011540838.3:c.189+16629G>A	XP_011539140.1:n.189+16629G>A
NM_001037317.2:c.237+16629G>A MANE Select	NP_001032394.1:n.237+16629G>A
NM_001010861.3:c.237+16629G>A	NP_001010861.1:n.237+16629G>A