Canonical Allele Identifier: CA7769227

Gene: NPRL3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.86667C>G , CM000678.2:g.86667C>G	GRCh38
NC_000016.9:g.136666C>G , CM000678.1:g.136666C>G	GRCh37
NC_000016.8:g.76666C>G	NCBI36
NG_029669.1:g.57033G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001077350.3:c.*38G>C MANE Select	NP_001070818.1:n.*38G>C
ENST00000611875.5:c.*38G>C MANE Select	ENSP00000478273.1:n.*38G>C
NM_001039476.2:c.*38G>C	NP_001034565.1:n.*38G>C
NM_001039476.3:c.*38G>C	NP_001034565.1:n.*38G>C
NM_001077350.2:c.*38G>C	NP_001070818.1:n.*38G>C
NM_001243247.1:c.*38G>C	NP_001230176.1:n.*38G>C
NM_001243247.2:c.*38G>C	NP_001230176.1:n.*38G>C
NM_001243248.1:c.*38G>C	NP_001230177.1:n.*38G>C
NM_001243248.2:c.*38G>C	NP_001230177.1:n.*38G>C
NM_001243249.1:c.*38G>C	NP_001230178.1:n.*38G>C
NM_001243249.2:c.*38G>C	NP_001230178.1:n.*38G>C
ENST00000399953.7:c.*38G>C	ENSP00000382834.4:n.*38G>C
ENST00000610509.1:n.2592+1G>C
ENST00000611875.4:c.*38G>C	ENSP00000478273.1:n.*38G>C
ENST00000620134.4:c.*38G>C	ENSP00000483814.1:n.*38G>C
ENST00000621703.4:c.*1333G>C	ENSP00000477801.1:n.*1333G>C
ENST00000622194.4:c.*1384G>C	ENSP00000478045.1:n.*1384G>C
XM_011522668.1:c.*37+1G>C	XP_011520970.1:n.*37+1G>C
XM_011522669.1:c.*37+1G>C	XP_011520971.1:n.*37+1G>C
XM_011522670.1:c.*37+1G>C	XP_011520972.1:n.*37+1G>C
XM_011522671.1:c.*37+1G>C	XP_011520973.1:n.*37+1G>C
XM_011522672.1:c.*37+1G>C	XP_011520974.1:n.*37+1G>C
XM_011522673.1:c.*37+1G>C	XP_011520975.1:n.*37+1G>C
XM_011522674.1:c.*37+1G>C	XP_011520976.1:n.*37+1G>C
XM_011522675.1:c.*37+1G>C	XP_011520977.1:n.*37+1G>C
XM_011522676.1:c.*37+1G>C	XP_011520978.1:n.*37+1G>C
XM_011522677.1:c.*37+1G>C	XP_011520979.1:n.*37+1G>C
XM_011522678.1:c.*37+1G>C	XP_011520980.1:n.*37+1G>C
XM_011522679.1:c.*37+1G>C	XP_011520981.1:n.*37+1G>C
XM_011522680.1:c.*37+1G>C	XP_011520982.1:n.*37+1G>C
XM_011522681.1:c.*37+1G>C	XP_011520983.1:n.*37+1G>C