Canonical Allele Identifier: CA394042355

Gene: MPG NPRL3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.85659C>T , CM000678.2:g.85659C>T	GRCh38
NC_000016.9:g.135658C>T , CM000678.1:g.135658C>T	GRCh37
NC_000016.8:g.75658C>T	NCBI36
NG_029669.1:g.58041G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001015052.3:c.764C>T (MPG) MANE Select	NP_001015052.1:p.Ala255Val
NM_001077350.3:c.*1046G>A (NPRL3) MANE Select	NP_001070818.1:n.*1046G>A
ENST00000356432.8:c.764C>T (MPG) MANE Select	ENSP00000348809.4:p.Ala255Val
ENST00000611875.5:c.*1046G>A (NPRL3) MANE Select	ENSP00000478273.1:n.*1046G>A
NM_001015052.2:c.764C>T (MPG)	NP_001015052.1:p.Ala255Val
NM_001015054.2:c.728C>T (MPG)	NP_001015054.1:p.Ala243Val
NM_001015054.3:c.728C>T (MPG)	NP_001015054.1:p.Ala243Val
NM_001039476.3:c.*1046G>A (NPRL3)	NP_001034565.1:n.*1046G>A
NM_001243247.2:c.*1046G>A (NPRL3)	NP_001230176.1:n.*1046G>A
NM_001243248.2:c.*1046G>A (NPRL3)	NP_001230177.1:n.*1046G>A
NM_001243249.2:c.*1046G>A (NPRL3)	NP_001230178.1:n.*1046G>A
NM_002434.3:c.779C>T (MPG)	NP_002425.2:p.Ala260Val
NM_002434.4:c.779C>T (MPG)	NP_002425.2:p.Ala260Val
ENST00000219431.4:c.779C>T (MPG)	ENSP00000219431.4:p.Ala260Val
ENST00000356432.7:c.764C>T (MPG)	ENSP00000348809.3:p.Ala255Val
ENST00000397817.5:c.728C>T (MPG)	ENSP00000380918.1:p.Ala243Val
ENST00000436333.5:c.728C>T (MPG)	ENSP00000388097.1:p.Ala243Val
ENST00000610509.1:n.2592+1009G>A (NPRL3)
ENST00000620134.4:c.*885+161G>A (NPRL3)	ENSP00000483814.1:n.*885+161G>A
ENST00000622194.4:c.*2392G>A (NPRL3)	ENSP00000478045.1:n.*2392G>A
XM_011522668.1:c.*37+1009G>A (NPRL3)	XP_011520970.1:n.*37+1009G>A
XM_011522669.1:c.*37+1009G>A (NPRL3)	XP_011520971.1:n.*37+1009G>A
XM_011522670.1:c.*37+1009G>A (NPRL3)	XP_011520972.1:n.*37+1009G>A
XM_011522671.1:c.*37+1009G>A (NPRL3)	XP_011520973.1:n.*37+1009G>A
XM_011522672.1:c.*37+1009G>A (NPRL3)	XP_011520974.1:n.*37+1009G>A
XM_011522673.1:c.*37+1009G>A (NPRL3)	XP_011520975.1:n.*37+1009G>A
XM_011522674.1:c.*37+1009G>A (NPRL3)	XP_011520976.1:n.*37+1009G>A
XM_011522675.1:c.*37+1009G>A (NPRL3)	XP_011520977.1:n.*37+1009G>A
XM_011522676.1:c.*37+1009G>A (NPRL3)	XP_011520978.1:n.*37+1009G>A
XM_011522677.1:c.*37+1009G>A (NPRL3)	XP_011520979.1:n.*37+1009G>A
XM_011522678.1:c.*37+1009G>A (NPRL3)	XP_011520980.1:n.*37+1009G>A
XM_011522679.1:c.*37+1009G>A (NPRL3)	XP_011520981.1:n.*37+1009G>A
XM_011522680.1:c.*37+1009G>A (NPRL3)	XP_011520982.1:n.*37+1009G>A
XM_011522681.1:c.*37+1009G>A (NPRL3)	XP_011520983.1:n.*37+1009G>A
XM_024450282.1:c.779C>T (MPG)	XP_024306050.1:p.Ala260Val