Canonical Allele Identifier: CA346668218
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918100A>G , CM000664.2:g.43918100A>G GRCh38
NC_000002.11:g.44145239A>G , CM000664.1:g.44145239A>G GRCh37
NC_000002.10:g.43998743A>G NCBI36
NG_008247.1:g.82906T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.625T>C
ENST00000682295.1:c.303+156T>C ENSP00000507499.1:n.303+156T>C
ENST00000682303.1:c.*2859T>C ENSP00000508325.1:n.*2859T>C
ENST00000682308.1:c.3073T>C ENSP00000507056.1:p.Ser1025Pro
ENST00000682480.1:c.3091T>C ENSP00000508344.1:p.Ser1031Pro
ENST00000682546.1:c.3070T>C ENSP00000508188.1:p.Ser1024Pro
ENST00000682585.1:c.3073T>C ENSP00000506885.1:p.Ser1025Pro
ENST00000682595.1:n.3657T>C
ENST00000682607.1:c.1491T>C
ENST00000682779.1:c.3064T>C ENSP00000507947.1:p.Ser1022Pro
ENST00000682845.1:n.2175T>C
ENST00000682885.1:c.3028T>C ENSP00000508036.1:p.Ser1010Pro
ENST00000682933.1:n.3147T>C
ENST00000683072.1:n.3657T>C
ENST00000683080.1:n.692T>C
ENST00000683125.1:c.3181T>C ENSP00000507939.1:p.Ser1061Pro
ENST00000683213.1:c.3076T>C ENSP00000507751.1:p.Ser1026Pro
ENST00000683220.1:c.3103T>C ENSP00000507151.1:p.Ser1035Pro
ENST00000683329.1:n.3876T>C
ENST00000683346.1:c.*2948T>C ENSP00000507458.1:n.*2948T>C
ENST00000683409.1:n.1680T>C
ENST00000683459.1:n.3660T>C
ENST00000683590.1:c.2897-5542T>C ENSP00000506820.1:n.2897-5542T>C
ENST00000683623.1:c.2980T>C ENSP00000507702.1:p.Ser994Pro
ENST00000683645.1:n.3624T>C
ENST00000683796.1:c.*2945T>C ENSP00000508221.1:n.*2945T>C
ENST00000683802.1:n.5998T>C
ENST00000683833.1:c.3064T>C ENSP00000506852.1:p.Ser1022Pro
ENST00000683994.1:c.3073T>C ENSP00000507181.1:p.Ser1025Pro
ENST00000684290.1:c.*609T>C ENSP00000507243.1:n.*609T>C
ENST00000684306.1:c.*2986T>C ENSP00000508384.1:n.*2986T>C
ENST00000684341.1:n.3093T>C
ENST00000684383.1:c.*2711T>C ENSP00000506863.1:n.*2711T>C
ENST00000684619.1:c.*2945T>C ENSP00000508088.1:n.*2945T>C
ENST00000684705.1:n.194T>C
ENST00000684743.1:n.4104T>C
ENST00000260665.12:c.3073T>C MANE Select ENSP00000260665.7:p.Ser1025Pro
ENST00000260665.11:c.3073T>C ENSP00000260665.7:p.Ser1025Pro
NM_133259.3:c.3073T>C NP_573566.2:p.Ser1025Pro
XM_006711915.2:c.2995T>C XP_006711978.1:p.Ser999Pro
XM_006711916.2:c.3073T>C XP_006711979.1:p.Ser1025Pro
XM_011532473.1:c.3073T>C XP_011530775.1:p.Ser1025Pro
XM_011532474.1:c.3073T>C XP_011530776.1:p.Ser1025Pro
XM_006711916.3:c.3073T>C XP_006711979.1:p.Ser1025Pro
XM_017003117.1:c.2995T>C XP_016858606.1:p.Ser999Pro
XR_002958896.1:n.3115T>C
NM_133259.4:c.3073T>C MANE Select NP_573566.2:p.Ser1025Pro