Canonical Allele Identifier: CA346674797
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43894577-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43894577T>C , CM000664.2:g.43894577T>C GRCh38
NC_000002.11:g.44121716T>C , CM000664.1:g.44121716T>C GRCh37
NC_000002.10:g.43975220T>C NCBI36
NG_008247.1:g.106429A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.583A>G
ENST00000681993.1:n.1505A>G
ENST00000682154.1:n.1387A>G
ENST00000682303.1:c.*3664A>G ENSP00000508325.1:n.*3664A>G
ENST00000682308.1:c.3878A>G ENSP00000507056.1:p.Glu1293Gly
ENST00000682434.1:n.3508A>G
ENST00000682480.1:c.3971A>G ENSP00000508344.1:p.Glu1324Gly
ENST00000682546.1:c.3950A>G ENSP00000508188.1:p.Glu1317Gly
ENST00000682585.1:c.*81A>G ENSP00000506885.1:n.*81A>G
ENST00000682607.1:c.2696A>G
ENST00000682612.1:c.752+2057A>G
ENST00000682696.1:c.53A>G ENSP00000508411.1:p.Glu18Gly
ENST00000682779.1:c.3944A>G ENSP00000507947.1:p.Glu1315Gly
ENST00000682885.1:c.3908A>G ENSP00000508036.1:p.Glu1303Gly
ENST00000682933.1:n.4153A>G
ENST00000683002.1:c.805A>G
ENST00000683072.1:n.4537A>G
ENST00000683080.1:n.1572A>G
ENST00000683096.1:n.2394A>G
ENST00000683125.1:c.4061A>G ENSP00000507939.1:p.Glu1354Gly
ENST00000683213.1:c.3956A>G ENSP00000507751.1:p.Glu1319Gly
ENST00000683220.1:c.3983A>G ENSP00000507151.1:p.Glu1328Gly
ENST00000683329.1:n.4756A>G
ENST00000683346.1:c.*3828A>G ENSP00000507458.1:n.*3828A>G
ENST00000683409.1:n.2485A>G
ENST00000683459.1:n.4540A>G
ENST00000683590.1:c.3626A>G ENSP00000506820.1:p.Glu1209Gly
ENST00000683623.1:c.3860A>G ENSP00000507702.1:p.Glu1287Gly
ENST00000683796.1:c.*3750A>G ENSP00000508221.1:n.*3750A>G
ENST00000683833.1:c.3869A>G ENSP00000506852.1:p.Glu1290Gly
ENST00000683994.1:c.*66A>G ENSP00000507181.1:n.*66A>G
ENST00000684290.1:c.*1414A>G ENSP00000507243.1:n.*1414A>G
ENST00000684306.1:c.*3866A>G ENSP00000508384.1:n.*3866A>G
ENST00000684383.1:c.*3591A>G ENSP00000506863.1:n.*3591A>G
ENST00000684418.1:n.5134A>G
ENST00000684433.1:n.337A>G
ENST00000684454.1:n.7817A>G
ENST00000684619.1:c.*3825A>G ENSP00000508088.1:n.*3825A>G
ENST00000684743.1:n.6698A>G
ENST00000260665.12:c.3953A>G MANE Select ENSP00000260665.7:p.Glu1318Gly
ENST00000260665.11:c.3953A>G ENSP00000260665.7:p.Glu1318Gly
ENST00000419884.5:c.194A>G ENSP00000414207.1:p.Glu65Gly
ENST00000463456.5:n.2996A>G
NM_133259.3:c.3953A>G NP_573566.2:p.Glu1318Gly
XM_006711915.2:c.3875A>G XP_006711978.1:p.Glu1292Gly
XM_011532473.1:c.3878A>G XP_011530775.1:p.Glu1293Gly
XM_011532474.1:c.3953A>G XP_011530776.1:p.Glu1318Gly
XM_017003117.1:c.3800A>G XP_016858606.1:p.Glu1267Gly
XR_002958896.1:n.3995A>G
NM_133259.4:c.3953A>G MANE Select NP_573566.2:p.Glu1318Gly