Canonical Allele Identifier: CA394052837
Community Standard Title: NM_001077350.3(NPRL3):c.1156C>T (p.Gln386Ter)
Gene: NPRL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.92601G>A , CM000678.2:g.92601G>A GRCh38
NC_000016.9:g.142599G>A , CM000678.1:g.142599G>A GRCh37
NC_000016.8:g.82599G>A NCBI36
NG_029669.1:g.51099C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001077350.3:c.1156C>T MANE Select NP_001070818.1:p.Gln386Ter
ENST00000611875.5:c.1156C>T MANE Select ENSP00000478273.1:p.Gln386Ter
NM_001039476.2:c.619C>T NP_001034565.1:p.Gln207Ter
NM_001039476.3:c.619C>T NP_001034565.1:p.Gln207Ter
NM_001077350.2:c.1156C>T NP_001070818.1:p.Gln386Ter
NM_001243247.1:c.922C>T NP_001230176.1:p.Gln308Ter
NM_001243247.2:c.922C>T NP_001230176.1:p.Gln308Ter
NM_001243248.1:c.1081C>T NP_001230177.1:p.Gln361Ter
NM_001243248.2:c.1081C>T NP_001230177.1:p.Gln361Ter
NM_001243249.1:c.1081C>T NP_001230178.1:p.Gln361Ter
NM_001243249.2:c.1081C>T NP_001230178.1:p.Gln361Ter
ENST00000399953.7:c.1081C>T ENSP00000382834.4:p.Gln361Ter
ENST00000611875.4:c.1156C>T ENSP00000478273.1:p.Gln386Ter
ENST00000620134.4:c.1156C>T ENSP00000483814.1:p.Gln386Ter
ENST00000621703.4:c.*741C>T ENSP00000477801.1:n.*741C>T
ENST00000622194.4:c.*792C>T ENSP00000478045.1:n.*792C>T
XM_011522668.1:c.1195C>T XP_011520970.1:p.Gln399Ter
XM_011522669.1:c.1156C>T XP_011520971.1:p.Gln386Ter
XM_011522670.1:c.1156C>T XP_011520972.1:p.Gln386Ter
XM_011522671.1:c.1120C>T XP_011520973.1:p.Gln374Ter
XM_011522672.1:c.1081C>T XP_011520974.1:p.Gln361Ter
XM_011522673.1:c.1081C>T XP_011520975.1:p.Gln361Ter
XM_011522674.1:c.1081C>T XP_011520976.1:p.Gln361Ter
XM_011522675.1:c.922C>T XP_011520977.1:p.Gln308Ter
XM_011522676.1:c.922C>T XP_011520978.1:p.Gln308Ter
XM_011522677.1:c.922C>T XP_011520979.1:p.Gln308Ter
XM_011522678.1:c.619C>T XP_011520980.1:p.Gln207Ter
XM_011522679.1:c.619C>T XP_011520981.1:p.Gln207Ter
XM_011522680.1:c.619C>T XP_011520982.1:p.Gln207Ter
XM_011522681.1:c.619C>T XP_011520983.1:p.Gln207Ter