Canonical Allele Identifier: CA2836619050

Gene: NPRL3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.113438C>A , CM000678.2:g.113438C>A	GRCh38
NC_000016.9:g.163437C>A , CM000678.1:g.163437C>A	GRCh37
NC_000016.8:g.103437C>A	NCBI36
NG_029669.1:g.30261G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611875.5:c.394-663G>T MANE Select	ENSP00000478273.1:n.394-663G>T
ENST00000399953.7:c.319-663G>T	ENSP00000382834.4:n.319-663G>T
ENST00000419636.1:c.433-663G>T	ENSP00000399894.1:n.433-663G>T
ENST00000422814.5:c.37-663G>T	ENSP00000395288.1:n.37-663G>T
ENST00000456528.5:c.*195-663G>T	ENSP00000401529.1:n.*195-663G>T
ENST00000457916.5:c.*135-663G>T	ENSP00000405942.1:n.*135-663G>T
ENST00000468260.5:c.160-663G>T	ENSP00000477764.1:n.160-663G>T
ENST00000473674.5:n.258-663G>T
ENST00000483663.5:c.*135-663G>T	ENSP00000418475.1:n.*135-663G>T
ENST00000611875.4:c.394-663G>T	ENSP00000478273.1:n.394-663G>T
ENST00000620134.4:c.394-663G>T	ENSP00000483814.1:n.394-663G>T
ENST00000621703.4:c.189-663G>T	ENSP00000477801.1:n.189-663G>T
ENST00000622194.4:c.*30-663G>T	ENSP00000478045.1:n.*30-663G>T
NM_001039476.2:c.-144-663G>T	NP_001034565.1:n.-144-663G>T
NM_001077350.2:c.394-663G>T	NP_001070818.1:n.394-663G>T
NM_001243247.1:c.160-663G>T	NP_001230176.1:n.160-663G>T
NM_001243248.1:c.319-663G>T	NP_001230177.1:n.319-663G>T
NM_001243249.1:c.319-663G>T	NP_001230178.1:n.319-663G>T
XM_011522668.1:c.433-663G>T	XP_011520970.1:n.433-663G>T
XM_011522669.1:c.394-663G>T	XP_011520971.1:n.394-663G>T
XM_011522670.1:c.394-663G>T	XP_011520972.1:n.394-663G>T
XM_011522671.1:c.358-663G>T	XP_011520973.1:n.358-663G>T
XM_011522672.1:c.319-663G>T	XP_011520974.1:n.319-663G>T
XM_011522673.1:c.319-663G>T	XP_011520975.1:n.319-663G>T
XM_011522674.1:c.319-663G>T	XP_011520976.1:n.319-663G>T
XM_011522675.1:c.160-663G>T	XP_011520977.1:n.160-663G>T
XM_011522676.1:c.160-663G>T	XP_011520978.1:n.160-663G>T
XM_011522677.1:c.160-663G>T	XP_011520979.1:n.160-663G>T
XM_011522678.1:c.-144-663G>T	XP_011520980.1:n.-144-663G>T
XM_011522679.1:c.-144-663G>T	XP_011520981.1:n.-144-663G>T
XM_011522680.1:c.-144-663G>T	XP_011520982.1:n.-144-663G>T
XM_011522681.1:c.-144-663G>T	XP_011520983.1:n.-144-663G>T
NM_001077350.3:c.394-663G>T MANE Select	NP_001070818.1:n.394-663G>T
NM_001039476.3:c.-144-663G>T	NP_001034565.1:n.-144-663G>T
NM_001243247.2:c.160-663G>T	NP_001230176.1:n.160-663G>T
NM_001243248.2:c.319-663G>T	NP_001230177.1:n.319-663G>T
NM_001243249.2:c.319-663G>T	NP_001230178.1:n.319-663G>T