Canonical Allele Identifier: CA346667904
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918036T>G , CM000664.2:g.43918036T>G GRCh38
NC_000002.11:g.44145175T>G , CM000664.1:g.44145175T>G GRCh37
NC_000002.10:g.43998679T>G NCBI36
NG_008247.1:g.82970A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.689A>C
ENST00000682295.1:c.303+220A>C ENSP00000507499.1:n.303+220A>C
ENST00000682303.1:c.*2923A>C ENSP00000508325.1:n.*2923A>C
ENST00000682308.1:c.3137A>C ENSP00000507056.1:p.Asn1046Thr
ENST00000682480.1:c.3155A>C ENSP00000508344.1:p.Asn1052Thr
ENST00000682546.1:c.3134A>C ENSP00000508188.1:p.Asn1045Thr
ENST00000682585.1:c.3137A>C ENSP00000506885.1:p.Asn1046Thr
ENST00000682595.1:n.3721A>C
ENST00000682607.1:c.1555A>C
ENST00000682779.1:c.3128A>C ENSP00000507947.1:p.Asn1043Thr
ENST00000682845.1:n.2239A>C
ENST00000682885.1:c.3092A>C ENSP00000508036.1:p.Asn1031Thr
ENST00000682933.1:n.3211A>C
ENST00000683072.1:n.3721A>C
ENST00000683080.1:n.756A>C
ENST00000683125.1:c.3245A>C ENSP00000507939.1:p.Asn1082Thr
ENST00000683213.1:c.3140A>C ENSP00000507751.1:p.Asn1047Thr
ENST00000683220.1:c.3167A>C ENSP00000507151.1:p.Asn1056Thr
ENST00000683329.1:n.3940A>C
ENST00000683346.1:c.*3012A>C ENSP00000507458.1:n.*3012A>C
ENST00000683409.1:n.1744A>C
ENST00000683459.1:n.3724A>C
ENST00000683590.1:c.2897-5478A>C ENSP00000506820.1:n.2897-5478A>C
ENST00000683623.1:c.3044A>C ENSP00000507702.1:p.Asn1015Thr
ENST00000683645.1:n.3688A>C
ENST00000683796.1:c.*3009A>C ENSP00000508221.1:n.*3009A>C
ENST00000683802.1:n.6062A>C
ENST00000683833.1:c.3128A>C ENSP00000506852.1:p.Asn1043Thr
ENST00000683994.1:c.3137A>C ENSP00000507181.1:p.Asn1046Thr
ENST00000684290.1:c.*673A>C ENSP00000507243.1:n.*673A>C
ENST00000684306.1:c.*3050A>C ENSP00000508384.1:n.*3050A>C
ENST00000684341.1:n.3157A>C
ENST00000684383.1:c.*2775A>C ENSP00000506863.1:n.*2775A>C
ENST00000684619.1:c.*3009A>C ENSP00000508088.1:n.*3009A>C
ENST00000684705.1:n.258A>C
ENST00000684743.1:n.4168A>C
ENST00000260665.12:c.3137A>C MANE Select ENSP00000260665.7:p.Asn1046Thr
ENST00000260665.11:c.3137A>C ENSP00000260665.7:p.Asn1046Thr
NM_133259.3:c.3137A>C NP_573566.2:p.Asn1046Thr
XM_006711915.2:c.3059A>C XP_006711978.1:p.Asn1020Thr
XM_006711916.2:c.3137A>C XP_006711979.1:p.Asn1046Thr
XM_011532473.1:c.3137A>C XP_011530775.1:p.Asn1046Thr
XM_011532474.1:c.3137A>C XP_011530776.1:p.Asn1046Thr
XM_006711916.3:c.3137A>C XP_006711979.1:p.Asn1046Thr
XM_017003117.1:c.3059A>C XP_016858606.1:p.Asn1020Thr
XR_002958896.1:n.3179A>C
NM_133259.4:c.3137A>C MANE Select NP_573566.2:p.Asn1046Thr