Canonical Allele Identifier: CA346665056
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.390A>T
ENST00000681993.1:n.863A>T
ENST00000682295.1:c.466A>T ENSP00000507499.1:n.466A>T
ENST00000682303.1:c.*3097A>T ENSP00000508325.1:n.*3097A>T
ENST00000682308.1:c.3311A>T ENSP00000507056.1:p.Asp1104Val
ENST00000682480.1:c.3329A>T ENSP00000508344.1:p.Asp1110Val
ENST00000682546.1:c.3308A>T ENSP00000508188.1:p.Asp1103Val
ENST00000682585.1:c.3311A>T ENSP00000506885.1:p.Asp1104Val
ENST00000682595.1:n.3895A>T
ENST00000682607.1:c.1729A>T
ENST00000682612.1:c.163A>T
ENST00000682779.1:c.3302A>T ENSP00000507947.1:p.Asp1101Val
ENST00000682845.1:n.2413A>T
ENST00000682885.1:c.3266A>T ENSP00000508036.1:p.Asp1089Val
ENST00000682933.1:n.3385A>T
ENST00000683002.1:c.163A>T
ENST00000683072.1:n.3895A>T
ENST00000683080.1:n.930A>T
ENST00000683125.1:c.3419A>T ENSP00000507939.1:p.Asp1140Val
ENST00000683213.1:c.3314A>T ENSP00000507751.1:p.Asp1105Val
ENST00000683220.1:c.3341A>T ENSP00000507151.1:p.Asp1114Val
ENST00000683329.1:n.4114A>T
ENST00000683346.1:c.*3186A>T ENSP00000507458.1:n.*3186A>T
ENST00000683409.1:n.1918A>T
ENST00000683459.1:n.3898A>T
ENST00000683528.1:c.163A>T
ENST00000683590.1:c.3059A>T ENSP00000506820.1:p.Asp1020Val
ENST00000683623.1:c.3218A>T ENSP00000507702.1:p.Asp1073Val
ENST00000683645.1:n.3862A>T
ENST00000683796.1:c.*3183A>T ENSP00000508221.1:n.*3183A>T
ENST00000683802.1:n.6236A>T
ENST00000683833.1:c.3302A>T ENSP00000506852.1:p.Asp1101Val
ENST00000683994.1:c.3311A>T ENSP00000507181.1:p.Asp1104Val
ENST00000684290.1:c.*847A>T ENSP00000507243.1:n.*847A>T
ENST00000684306.1:c.*3224A>T ENSP00000508384.1:n.*3224A>T
ENST00000684341.1:n.3331A>T
ENST00000684383.1:c.*2949A>T ENSP00000506863.1:n.*2949A>T
ENST00000684418.1:n.4492A>T
ENST00000684454.1:n.2661A>T
ENST00000684619.1:c.*3183A>T ENSP00000508088.1:n.*3183A>T
ENST00000684743.1:n.4342A>T
ENST00000260665.12:c.3311A>T MANE Select ENSP00000260665.7:p.Asp1104Val
ENST00000260665.11:c.3311A>T ENSP00000260665.7:p.Asp1104Val
NM_133259.3:c.3311A>T NP_573566.2:p.Asp1104Val
XM_006711915.2:c.3233A>T XP_006711978.1:p.Asp1078Val
XM_011532473.1:c.3311A>T XP_011530775.1:p.Asp1104Val
XM_011532474.1:c.3311A>T XP_011530776.1:p.Asp1104Val
XM_017003117.1:c.3233A>T XP_016858606.1:p.Asp1078Val
XR_002958896.1:n.3353A>T
NM_133259.4:c.3311A>T MANE Select NP_573566.2:p.Asp1104Val