Canonical Allele Identifier: CA2493988240
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1671554784

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918369dup , CM000664.2:g.43918369dup GRCh38
NC_000002.11:g.44145508dup , CM000664.1:g.44145508dup GRCh37
NC_000002.10:g.43999012dup NCBI36
NG_008247.1:g.82637dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.478dup
ENST00000682295.1:c.190dup ENSP00000507499.1:p.Ala64GlyfsTer5
ENST00000682303.1:c.*2712dup ENSP00000508325.1:n.*2712dup
ENST00000682308.1:c.2926dup ENSP00000507056.1:p.Ala976GlyfsTer5
ENST00000682480.1:c.2926dup ENSP00000508344.1:p.Ala976GlyfsTer5
ENST00000682546.1:c.2923dup ENSP00000508188.1:p.Ala975GlyfsTer5
ENST00000682585.1:c.2926dup ENSP00000506885.1:p.Ala976GlyfsTer5
ENST00000682595.1:n.3510dup
ENST00000682607.1:c.1344dup
ENST00000682779.1:c.2917dup ENSP00000507947.1:p.Ala973GlyfsTer5
ENST00000682845.1:n.2028dup
ENST00000682885.1:c.2881dup ENSP00000508036.1:p.Ala961GlyfsTer5
ENST00000682933.1:n.3000dup
ENST00000683072.1:n.3510dup
ENST00000683080.1:n.545dup
ENST00000683125.1:c.3034dup ENSP00000507939.1:p.Ala1012GlyfsTer5
ENST00000683213.1:c.2929dup ENSP00000507751.1:p.Ala977GlyfsTer5
ENST00000683220.1:c.2956dup ENSP00000507151.1:p.Ala986GlyfsTer5
ENST00000683236.1:c.256dup ENSP00000506891.1:n.256dup
ENST00000683329.1:n.3729dup
ENST00000683346.1:c.*2801dup ENSP00000507458.1:n.*2801dup
ENST00000683409.1:n.1533dup
ENST00000683459.1:n.3513dup
ENST00000683590.1:c.2897-5811dup ENSP00000506820.1:n.2897-5811dup
ENST00000683623.1:c.2833dup ENSP00000507702.1:p.Ala945GlyfsTer5
ENST00000683645.1:n.3477dup
ENST00000683796.1:c.*2798dup ENSP00000508221.1:n.*2798dup
ENST00000683802.1:n.5851dup
ENST00000683833.1:c.2917dup ENSP00000506852.1:p.Ala973GlyfsTer5
ENST00000683994.1:c.2926dup ENSP00000507181.1:p.Ala976GlyfsTer5
ENST00000684290.1:c.*462dup ENSP00000507243.1:n.*462dup
ENST00000684306.1:c.*2839dup ENSP00000508384.1:n.*2839dup
ENST00000684341.1:n.2946dup
ENST00000684383.1:c.*2564dup ENSP00000506863.1:n.*2564dup
ENST00000684619.1:c.*2798dup ENSP00000508088.1:n.*2798dup
ENST00000684705.1:n.47dup
ENST00000684743.1:n.3957dup
ENST00000260665.12:c.2926dup MANE Select ENSP00000260665.7:p.Ala976GlyfsTer5
ENST00000260665.11:c.2926dup ENSP00000260665.7:p.Ala976GlyfsTer5
NM_133259.3:c.2926dup NP_573566.2:p.Ala976GlyfsTer5
XM_006711915.2:c.2848dup XP_006711978.1:p.Ala950GlyfsTer5
XM_006711916.2:c.2926dup XP_006711979.1:p.Ala976GlyfsTer5
XM_011532473.1:c.2926dup XP_011530775.1:p.Ala976GlyfsTer5
XM_011532474.1:c.2926dup XP_011530776.1:p.Ala976GlyfsTer5
XM_006711916.3:c.2926dup XP_006711979.1:p.Ala976GlyfsTer5
XM_017003117.1:c.2848dup XP_016858606.1:p.Ala950GlyfsTer5
XR_002958896.1:n.2968dup
NM_133259.4:c.2926dup MANE Select NP_573566.2:p.Ala976GlyfsTer5