Canonical Allele Identifier: CA346668667
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918386T>A , CM000664.2:g.43918386T>A GRCh38
NC_000002.11:g.44145525T>A , CM000664.1:g.44145525T>A GRCh37
NC_000002.10:g.43999029T>A NCBI36
NG_008247.1:g.82620A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.461A>T
ENST00000682295.1:c.173A>T ENSP00000507499.1:p.Asp58Val
ENST00000682303.1:c.*2695A>T ENSP00000508325.1:n.*2695A>T
ENST00000682308.1:c.2909A>T ENSP00000507056.1:p.Asp970Val
ENST00000682480.1:c.2909A>T ENSP00000508344.1:p.Asp970Val
ENST00000682546.1:c.2906A>T ENSP00000508188.1:p.Asp969Val
ENST00000682585.1:c.2909A>T ENSP00000506885.1:p.Asp970Val
ENST00000682595.1:n.3493A>T
ENST00000682607.1:c.1327A>T
ENST00000682779.1:c.2900A>T ENSP00000507947.1:p.Asp967Val
ENST00000682845.1:n.2011A>T
ENST00000682885.1:c.2864A>T ENSP00000508036.1:p.Asp955Val
ENST00000682933.1:n.2983A>T
ENST00000683072.1:n.3493A>T
ENST00000683080.1:n.528A>T
ENST00000683125.1:c.3017A>T ENSP00000507939.1:p.Asp1006Val
ENST00000683213.1:c.2912A>T ENSP00000507751.1:p.Asp971Val
ENST00000683220.1:c.2939A>T ENSP00000507151.1:p.Asp980Val
ENST00000683236.1:c.239A>T ENSP00000506891.1:n.239A>T
ENST00000683329.1:n.3712A>T
ENST00000683346.1:c.*2784A>T ENSP00000507458.1:n.*2784A>T
ENST00000683409.1:n.1516A>T
ENST00000683459.1:n.3496A>T
ENST00000683590.1:c.2897-5828A>T ENSP00000506820.1:n.2897-5828A>T
ENST00000683623.1:c.2816A>T ENSP00000507702.1:p.Asp939Val
ENST00000683645.1:n.3460A>T
ENST00000683796.1:c.*2781A>T ENSP00000508221.1:n.*2781A>T
ENST00000683802.1:n.5834A>T
ENST00000683833.1:c.2900A>T ENSP00000506852.1:p.Asp967Val
ENST00000683994.1:c.2909A>T ENSP00000507181.1:p.Asp970Val
ENST00000684290.1:c.*445A>T ENSP00000507243.1:n.*445A>T
ENST00000684306.1:c.*2822A>T ENSP00000508384.1:n.*2822A>T
ENST00000684341.1:n.2929A>T
ENST00000684383.1:c.*2547A>T ENSP00000506863.1:n.*2547A>T
ENST00000684619.1:c.*2781A>T ENSP00000508088.1:n.*2781A>T
ENST00000684705.1:n.30A>T
ENST00000684743.1:n.3940A>T
ENST00000260665.12:c.2909A>T MANE Select ENSP00000260665.7:p.Asp970Val
ENST00000260665.11:c.2909A>T ENSP00000260665.7:p.Asp970Val
NM_133259.3:c.2909A>T NP_573566.2:p.Asp970Val
XM_006711915.2:c.2831A>T XP_006711978.1:p.Asp944Val
XM_006711916.2:c.2909A>T XP_006711979.1:p.Asp970Val
XM_011532473.1:c.2909A>T XP_011530775.1:p.Asp970Val
XM_011532474.1:c.2909A>T XP_011530776.1:p.Asp970Val
XM_006711916.3:c.2909A>T XP_006711979.1:p.Asp970Val
XM_017003117.1:c.2831A>T XP_016858606.1:p.Asp944Val
XR_002958896.1:n.2951A>T
NM_133259.4:c.2909A>T MANE Select NP_573566.2:p.Asp970Val