Canonical Allele Identifier: CA7769244

Gene: NPRL3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.86728C>T , CM000678.2:g.86728C>T	GRCh38
NC_000016.9:g.136727C>T , CM000678.1:g.136727C>T	GRCh37
NC_000016.8:g.76727C>T	NCBI36
NG_029669.1:g.56972G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001077350.3:c.1687G>A MANE Select	NP_001070818.1:p.Val563Ile
ENST00000611875.5:c.1687G>A MANE Select	ENSP00000478273.1:p.Val563Ile
NM_001039476.2:c.1150G>A	NP_001034565.1:p.Val384Ile
NM_001039476.3:c.1150G>A	NP_001034565.1:p.Val384Ile
NM_001077350.2:c.1687G>A	NP_001070818.1:p.Val563Ile
NM_001243247.1:c.1453G>A	NP_001230176.1:p.Val485Ile
NM_001243247.2:c.1453G>A	NP_001230176.1:p.Val485Ile
NM_001243248.1:c.1612G>A	NP_001230177.1:p.Val538Ile
NM_001243248.2:c.1612G>A	NP_001230177.1:p.Val538Ile
NM_001243249.1:c.1612G>A	NP_001230178.1:p.Val538Ile
NM_001243249.2:c.1612G>A	NP_001230178.1:p.Val538Ile
ENST00000399953.7:c.1612G>A	ENSP00000382834.4:p.Val538Ile
ENST00000610509.1:n.2532G>A
ENST00000611875.4:c.1687G>A	ENSP00000478273.1:p.Val563Ile
ENST00000620134.4:c.1687G>A	ENSP00000483814.1:p.Val563Ile
ENST00000621703.4:c.*1272G>A	ENSP00000477801.1:n.*1272G>A
ENST00000622194.4:c.*1323G>A	ENSP00000478045.1:n.*1323G>A
XM_011522668.1:c.1726G>A	XP_011520970.1:p.Val576Ile
XM_011522669.1:c.1687G>A	XP_011520971.1:p.Val563Ile
XM_011522670.1:c.1687G>A	XP_011520972.1:p.Val563Ile
XM_011522671.1:c.1651G>A	XP_011520973.1:p.Val551Ile
XM_011522672.1:c.1612G>A	XP_011520974.1:p.Val538Ile
XM_011522673.1:c.1612G>A	XP_011520975.1:p.Val538Ile
XM_011522674.1:c.1612G>A	XP_011520976.1:p.Val538Ile
XM_011522675.1:c.1453G>A	XP_011520977.1:p.Val485Ile
XM_011522676.1:c.1453G>A	XP_011520978.1:p.Val485Ile
XM_011522677.1:c.1453G>A	XP_011520979.1:p.Val485Ile
XM_011522678.1:c.1150G>A	XP_011520980.1:p.Val384Ile
XM_011522679.1:c.1150G>A	XP_011520981.1:p.Val384Ile
XM_011522680.1:c.1150G>A	XP_011520982.1:p.Val384Ile
XM_011522681.1:c.1150G>A	XP_011520983.1:p.Val384Ile