Canonical Allele Identifier: CA346668619
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918363A>T , CM000664.2:g.43918363A>T GRCh38
NC_000002.11:g.44145502A>T , CM000664.1:g.44145502A>T GRCh37
NC_000002.10:g.43999006A>T NCBI36
NG_008247.1:g.82643T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.484T>A
ENST00000682295.1:c.196T>A ENSP00000507499.1:p.Trp66Arg
ENST00000682303.1:c.*2718T>A ENSP00000508325.1:n.*2718T>A
ENST00000682308.1:c.2932T>A ENSP00000507056.1:p.Trp978Arg
ENST00000682480.1:c.2932T>A ENSP00000508344.1:p.Trp978Arg
ENST00000682546.1:c.2929T>A ENSP00000508188.1:p.Trp977Arg
ENST00000682585.1:c.2932T>A ENSP00000506885.1:p.Trp978Arg
ENST00000682595.1:n.3516T>A
ENST00000682607.1:c.1350T>A
ENST00000682779.1:c.2923T>A ENSP00000507947.1:p.Trp975Arg
ENST00000682845.1:n.2034T>A
ENST00000682885.1:c.2887T>A ENSP00000508036.1:p.Trp963Arg
ENST00000682933.1:n.3006T>A
ENST00000683072.1:n.3516T>A
ENST00000683080.1:n.551T>A
ENST00000683125.1:c.3040T>A ENSP00000507939.1:p.Trp1014Arg
ENST00000683213.1:c.2935T>A ENSP00000507751.1:p.Trp979Arg
ENST00000683220.1:c.2962T>A ENSP00000507151.1:p.Trp988Arg
ENST00000683236.1:c.262T>A ENSP00000506891.1:n.262T>A
ENST00000683329.1:n.3735T>A
ENST00000683346.1:c.*2807T>A ENSP00000507458.1:n.*2807T>A
ENST00000683409.1:n.1539T>A
ENST00000683459.1:n.3519T>A
ENST00000683590.1:c.2897-5805T>A ENSP00000506820.1:n.2897-5805T>A
ENST00000683623.1:c.2839T>A ENSP00000507702.1:p.Trp947Arg
ENST00000683645.1:n.3483T>A
ENST00000683796.1:c.*2804T>A ENSP00000508221.1:n.*2804T>A
ENST00000683802.1:n.5857T>A
ENST00000683833.1:c.2923T>A ENSP00000506852.1:p.Trp975Arg
ENST00000683994.1:c.2932T>A ENSP00000507181.1:p.Trp978Arg
ENST00000684290.1:c.*468T>A ENSP00000507243.1:n.*468T>A
ENST00000684306.1:c.*2845T>A ENSP00000508384.1:n.*2845T>A
ENST00000684341.1:n.2952T>A
ENST00000684383.1:c.*2570T>A ENSP00000506863.1:n.*2570T>A
ENST00000684619.1:c.*2804T>A ENSP00000508088.1:n.*2804T>A
ENST00000684705.1:n.53T>A
ENST00000684743.1:n.3963T>A
ENST00000260665.12:c.2932T>A MANE Select ENSP00000260665.7:p.Trp978Arg
ENST00000260665.11:c.2932T>A ENSP00000260665.7:p.Trp978Arg
NM_133259.3:c.2932T>A NP_573566.2:p.Trp978Arg
XM_006711915.2:c.2854T>A XP_006711978.1:p.Trp952Arg
XM_006711916.2:c.2932T>A XP_006711979.1:p.Trp978Arg
XM_011532473.1:c.2932T>A XP_011530775.1:p.Trp978Arg
XM_011532474.1:c.2932T>A XP_011530776.1:p.Trp978Arg
XM_006711916.3:c.2932T>A XP_006711979.1:p.Trp978Arg
XM_017003117.1:c.2854T>A XP_016858606.1:p.Trp952Arg
XR_002958896.1:n.2974T>A
NM_133259.4:c.2932T>A MANE Select NP_573566.2:p.Trp978Arg