Canonical Allele Identifier: CA346665054
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905745T>C , CM000664.2:g.43905745T>C GRCh38
NC_000002.11:g.44132884T>C , CM000664.1:g.44132884T>C GRCh37
NC_000002.10:g.43986388T>C NCBI36
NG_008247.1:g.95261A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.390A>G
ENST00000681993.1:n.863A>G
ENST00000682295.1:c.466A>G ENSP00000507499.1:n.466A>G
ENST00000682303.1:c.*3097A>G ENSP00000508325.1:n.*3097A>G
ENST00000682308.1:c.3311A>G ENSP00000507056.1:p.Asp1104Gly
ENST00000682480.1:c.3329A>G ENSP00000508344.1:p.Asp1110Gly
ENST00000682546.1:c.3308A>G ENSP00000508188.1:p.Asp1103Gly
ENST00000682585.1:c.3311A>G ENSP00000506885.1:p.Asp1104Gly
ENST00000682595.1:n.3895A>G
ENST00000682607.1:c.1729A>G
ENST00000682612.1:c.163A>G
ENST00000682779.1:c.3302A>G ENSP00000507947.1:p.Asp1101Gly
ENST00000682845.1:n.2413A>G
ENST00000682885.1:c.3266A>G ENSP00000508036.1:p.Asp1089Gly
ENST00000682933.1:n.3385A>G
ENST00000683002.1:c.163A>G
ENST00000683072.1:n.3895A>G
ENST00000683080.1:n.930A>G
ENST00000683125.1:c.3419A>G ENSP00000507939.1:p.Asp1140Gly
ENST00000683213.1:c.3314A>G ENSP00000507751.1:p.Asp1105Gly
ENST00000683220.1:c.3341A>G ENSP00000507151.1:p.Asp1114Gly
ENST00000683329.1:n.4114A>G
ENST00000683346.1:c.*3186A>G ENSP00000507458.1:n.*3186A>G
ENST00000683409.1:n.1918A>G
ENST00000683459.1:n.3898A>G
ENST00000683528.1:c.163A>G
ENST00000683590.1:c.3059A>G ENSP00000506820.1:p.Asp1020Gly
ENST00000683623.1:c.3218A>G ENSP00000507702.1:p.Asp1073Gly
ENST00000683645.1:n.3862A>G
ENST00000683796.1:c.*3183A>G ENSP00000508221.1:n.*3183A>G
ENST00000683802.1:n.6236A>G
ENST00000683833.1:c.3302A>G ENSP00000506852.1:p.Asp1101Gly
ENST00000683994.1:c.3311A>G ENSP00000507181.1:p.Asp1104Gly
ENST00000684290.1:c.*847A>G ENSP00000507243.1:n.*847A>G
ENST00000684306.1:c.*3224A>G ENSP00000508384.1:n.*3224A>G
ENST00000684341.1:n.3331A>G
ENST00000684383.1:c.*2949A>G ENSP00000506863.1:n.*2949A>G
ENST00000684418.1:n.4492A>G
ENST00000684454.1:n.2661A>G
ENST00000684619.1:c.*3183A>G ENSP00000508088.1:n.*3183A>G
ENST00000684743.1:n.4342A>G
ENST00000260665.12:c.3311A>G MANE Select ENSP00000260665.7:p.Asp1104Gly
ENST00000260665.11:c.3311A>G ENSP00000260665.7:p.Asp1104Gly
NM_133259.3:c.3311A>G NP_573566.2:p.Asp1104Gly
XM_006711915.2:c.3233A>G XP_006711978.1:p.Asp1078Gly
XM_011532473.1:c.3311A>G XP_011530775.1:p.Asp1104Gly
XM_011532474.1:c.3311A>G XP_011530776.1:p.Asp1104Gly
XM_017003117.1:c.3233A>G XP_016858606.1:p.Asp1078Gly
XR_002958896.1:n.3353A>G
NM_133259.4:c.3311A>G MANE Select NP_573566.2:p.Asp1104Gly