Canonical Allele Identifier: CA346668162
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918088A>G , CM000664.2:g.43918088A>G GRCh38
NC_000002.11:g.44145227A>G , CM000664.1:g.44145227A>G GRCh37
NC_000002.10:g.43998731A>G NCBI36
NG_008247.1:g.82918T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.637T>C
ENST00000682295.1:c.303+168T>C ENSP00000507499.1:n.303+168T>C
ENST00000682303.1:c.*2871T>C ENSP00000508325.1:n.*2871T>C
ENST00000682308.1:c.3085T>C ENSP00000507056.1:p.Ser1029Pro
ENST00000682480.1:c.3103T>C ENSP00000508344.1:p.Ser1035Pro
ENST00000682546.1:c.3082T>C ENSP00000508188.1:p.Ser1028Pro
ENST00000682585.1:c.3085T>C ENSP00000506885.1:p.Ser1029Pro
ENST00000682595.1:n.3669T>C
ENST00000682607.1:c.1503T>C
ENST00000682779.1:c.3076T>C ENSP00000507947.1:p.Ser1026Pro
ENST00000682845.1:n.2187T>C
ENST00000682885.1:c.3040T>C ENSP00000508036.1:p.Ser1014Pro
ENST00000682933.1:n.3159T>C
ENST00000683072.1:n.3669T>C
ENST00000683080.1:n.704T>C
ENST00000683125.1:c.3193T>C ENSP00000507939.1:p.Ser1065Pro
ENST00000683213.1:c.3088T>C ENSP00000507751.1:p.Ser1030Pro
ENST00000683220.1:c.3115T>C ENSP00000507151.1:p.Ser1039Pro
ENST00000683329.1:n.3888T>C
ENST00000683346.1:c.*2960T>C ENSP00000507458.1:n.*2960T>C
ENST00000683409.1:n.1692T>C
ENST00000683459.1:n.3672T>C
ENST00000683590.1:c.2897-5530T>C ENSP00000506820.1:n.2897-5530T>C
ENST00000683623.1:c.2992T>C ENSP00000507702.1:p.Ser998Pro
ENST00000683645.1:n.3636T>C
ENST00000683796.1:c.*2957T>C ENSP00000508221.1:n.*2957T>C
ENST00000683802.1:n.6010T>C
ENST00000683833.1:c.3076T>C ENSP00000506852.1:p.Ser1026Pro
ENST00000683994.1:c.3085T>C ENSP00000507181.1:p.Ser1029Pro
ENST00000684290.1:c.*621T>C ENSP00000507243.1:n.*621T>C
ENST00000684306.1:c.*2998T>C ENSP00000508384.1:n.*2998T>C
ENST00000684341.1:n.3105T>C
ENST00000684383.1:c.*2723T>C ENSP00000506863.1:n.*2723T>C
ENST00000684619.1:c.*2957T>C ENSP00000508088.1:n.*2957T>C
ENST00000684705.1:n.206T>C
ENST00000684743.1:n.4116T>C
ENST00000260665.12:c.3085T>C MANE Select ENSP00000260665.7:p.Ser1029Pro
ENST00000260665.11:c.3085T>C ENSP00000260665.7:p.Ser1029Pro
NM_133259.3:c.3085T>C NP_573566.2:p.Ser1029Pro
XM_006711915.2:c.3007T>C XP_006711978.1:p.Ser1003Pro
XM_006711916.2:c.3085T>C XP_006711979.1:p.Ser1029Pro
XM_011532473.1:c.3085T>C XP_011530775.1:p.Ser1029Pro
XM_011532474.1:c.3085T>C XP_011530776.1:p.Ser1029Pro
XM_006711916.3:c.3085T>C XP_006711979.1:p.Ser1029Pro
XM_017003117.1:c.3007T>C XP_016858606.1:p.Ser1003Pro
XR_002958896.1:n.3127T>C
NM_133259.4:c.3085T>C MANE Select NP_573566.2:p.Ser1029Pro