Canonical Allele Identifier: CA346674789
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43894574-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43894574T>C , CM000664.2:g.43894574T>C GRCh38
NC_000002.11:g.44121713T>C , CM000664.1:g.44121713T>C GRCh37
NC_000002.10:g.43975217T>C NCBI36
NG_008247.1:g.106432A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.586A>G
ENST00000681993.1:n.1508A>G
ENST00000682154.1:n.1390A>G
ENST00000682303.1:c.*3667A>G ENSP00000508325.1:n.*3667A>G
ENST00000682308.1:c.3881A>G ENSP00000507056.1:p.Glu1294Gly
ENST00000682434.1:n.3511A>G
ENST00000682480.1:c.3974A>G ENSP00000508344.1:p.Glu1325Gly
ENST00000682546.1:c.3953A>G ENSP00000508188.1:p.Glu1318Gly
ENST00000682585.1:c.*84A>G ENSP00000506885.1:n.*84A>G
ENST00000682607.1:c.2699A>G
ENST00000682612.1:c.752+2060A>G
ENST00000682696.1:c.56A>G ENSP00000508411.1:p.Glu19Gly
ENST00000682779.1:c.3947A>G ENSP00000507947.1:p.Glu1316Gly
ENST00000682885.1:c.3911A>G ENSP00000508036.1:p.Glu1304Gly
ENST00000682933.1:n.4156A>G
ENST00000683002.1:c.808A>G
ENST00000683072.1:n.4540A>G
ENST00000683080.1:n.1575A>G
ENST00000683096.1:n.2397A>G
ENST00000683125.1:c.4064A>G ENSP00000507939.1:p.Glu1355Gly
ENST00000683213.1:c.3959A>G ENSP00000507751.1:p.Glu1320Gly
ENST00000683220.1:c.3986A>G ENSP00000507151.1:p.Glu1329Gly
ENST00000683329.1:n.4759A>G
ENST00000683346.1:c.*3831A>G ENSP00000507458.1:n.*3831A>G
ENST00000683409.1:n.2488A>G
ENST00000683459.1:n.4543A>G
ENST00000683590.1:c.3629A>G ENSP00000506820.1:p.Glu1210Gly
ENST00000683623.1:c.3863A>G ENSP00000507702.1:p.Glu1288Gly
ENST00000683796.1:c.*3753A>G ENSP00000508221.1:n.*3753A>G
ENST00000683833.1:c.3872A>G ENSP00000506852.1:p.Glu1291Gly
ENST00000683994.1:c.*69A>G ENSP00000507181.1:n.*69A>G
ENST00000684290.1:c.*1417A>G ENSP00000507243.1:n.*1417A>G
ENST00000684306.1:c.*3869A>G ENSP00000508384.1:n.*3869A>G
ENST00000684383.1:c.*3594A>G ENSP00000506863.1:n.*3594A>G
ENST00000684418.1:n.5137A>G
ENST00000684433.1:n.340A>G
ENST00000684454.1:n.7820A>G
ENST00000684619.1:c.*3828A>G ENSP00000508088.1:n.*3828A>G
ENST00000684743.1:n.6701A>G
ENST00000260665.12:c.3956A>G MANE Select ENSP00000260665.7:p.Glu1319Gly
ENST00000260665.11:c.3956A>G ENSP00000260665.7:p.Glu1319Gly
ENST00000419884.5:c.197A>G ENSP00000414207.1:p.Glu66Gly
ENST00000463456.5:n.2999A>G
NM_133259.3:c.3956A>G NP_573566.2:p.Glu1319Gly
XM_006711915.2:c.3878A>G XP_006711978.1:p.Glu1293Gly
XM_011532473.1:c.3881A>G XP_011530775.1:p.Glu1294Gly
XM_011532474.1:c.3956A>G XP_011530776.1:p.Glu1319Gly
XM_017003117.1:c.3803A>G XP_016858606.1:p.Glu1268Gly
XR_002958896.1:n.3998A>G
NM_133259.4:c.3956A>G MANE Select NP_573566.2:p.Glu1319Gly