Canonical Allele Identifier: CA2493988214
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1671551430

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918318dup , CM000664.2:g.43918318dup GRCh38
NC_000002.11:g.44145457dup , CM000664.1:g.44145457dup GRCh37
NC_000002.10:g.43998961dup NCBI36
NG_008247.1:g.82689dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.530dup
ENST00000682295.1:c.242dup ENSP00000507499.1:p.Leu81PhefsTer9
ENST00000682303.1:c.*2764dup ENSP00000508325.1:n.*2764dup
ENST00000682308.1:c.2978dup ENSP00000507056.1:p.Leu993PhefsTer9
ENST00000682480.1:c.2978dup ENSP00000508344.1:p.Leu993PhefsTer9
ENST00000682546.1:c.2975dup ENSP00000508188.1:p.Leu992PhefsTer9
ENST00000682585.1:c.2978dup ENSP00000506885.1:p.Leu993PhefsTer9
ENST00000682595.1:n.3562dup
ENST00000682607.1:c.1396dup
ENST00000682779.1:c.2969dup ENSP00000507947.1:p.Leu990PhefsTer9
ENST00000682845.1:n.2080dup
ENST00000682885.1:c.2933dup ENSP00000508036.1:p.Leu978PhefsTer9
ENST00000682933.1:n.3052dup
ENST00000683072.1:n.3562dup
ENST00000683080.1:n.597dup
ENST00000683125.1:c.3086dup ENSP00000507939.1:p.Leu1029PhefsTer9
ENST00000683213.1:c.2981dup ENSP00000507751.1:p.Leu994PhefsTer9
ENST00000683220.1:c.3008dup ENSP00000507151.1:p.Leu1003PhefsTer9
ENST00000683236.1:c.308dup ENSP00000506891.1:n.308dup
ENST00000683329.1:n.3781dup
ENST00000683346.1:c.*2853dup ENSP00000507458.1:n.*2853dup
ENST00000683409.1:n.1585dup
ENST00000683459.1:n.3565dup
ENST00000683590.1:c.2897-5759dup ENSP00000506820.1:n.2897-5759dup
ENST00000683623.1:c.2885dup ENSP00000507702.1:p.Leu962PhefsTer9
ENST00000683645.1:n.3529dup
ENST00000683796.1:c.*2850dup ENSP00000508221.1:n.*2850dup
ENST00000683802.1:n.5903dup
ENST00000683833.1:c.2969dup ENSP00000506852.1:p.Leu990PhefsTer9
ENST00000683994.1:c.2978dup ENSP00000507181.1:p.Leu993PhefsTer9
ENST00000684290.1:c.*514dup ENSP00000507243.1:n.*514dup
ENST00000684306.1:c.*2891dup ENSP00000508384.1:n.*2891dup
ENST00000684341.1:n.2998dup
ENST00000684383.1:c.*2616dup ENSP00000506863.1:n.*2616dup
ENST00000684619.1:c.*2850dup ENSP00000508088.1:n.*2850dup
ENST00000684705.1:n.99dup
ENST00000684743.1:n.4009dup
ENST00000260665.12:c.2978dup MANE Select ENSP00000260665.7:p.Leu993PhefsTer9
ENST00000260665.11:c.2978dup ENSP00000260665.7:p.Leu993PhefsTer9
NM_133259.3:c.2978dup NP_573566.2:p.Leu993PhefsTer9
XM_006711915.2:c.2900dup XP_006711978.1:p.Leu967PhefsTer9
XM_006711916.2:c.2978dup XP_006711979.1:p.Leu993PhefsTer9
XM_011532473.1:c.2978dup XP_011530775.1:p.Leu993PhefsTer9
XM_011532474.1:c.2978dup XP_011530776.1:p.Leu993PhefsTer9
XM_006711916.3:c.2978dup XP_006711979.1:p.Leu993PhefsTer9
XM_017003117.1:c.2900dup XP_016858606.1:p.Leu967PhefsTer9
XR_002958896.1:n.3020dup
NM_133259.4:c.2978dup MANE Select NP_573566.2:p.Leu993PhefsTer9