Canonical Allele Identifier: CA346668396
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918263A>T , CM000664.2:g.43918263A>T GRCh38
NC_000002.11:g.44145402A>T , CM000664.1:g.44145402A>T GRCh37
NC_000002.10:g.43998906A>T NCBI36
NG_008247.1:g.82743T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.584T>A
ENST00000682295.1:c.296T>A ENSP00000507499.1:p.Val99Glu
ENST00000682303.1:c.*2818T>A ENSP00000508325.1:n.*2818T>A
ENST00000682308.1:c.3032T>A ENSP00000507056.1:p.Val1011Glu
ENST00000682480.1:c.3032T>A ENSP00000508344.1:p.Val1011Glu
ENST00000682546.1:c.3029T>A ENSP00000508188.1:p.Val1010Glu
ENST00000682585.1:c.3032T>A ENSP00000506885.1:p.Val1011Glu
ENST00000682595.1:n.3616T>A
ENST00000682607.1:c.1450T>A
ENST00000682779.1:c.3023T>A ENSP00000507947.1:p.Val1008Glu
ENST00000682845.1:n.2134T>A
ENST00000682885.1:c.2987T>A ENSP00000508036.1:p.Val996Glu
ENST00000682933.1:n.3106T>A
ENST00000683072.1:n.3616T>A
ENST00000683080.1:n.651T>A
ENST00000683125.1:c.3140T>A ENSP00000507939.1:p.Val1047Glu
ENST00000683213.1:c.3035T>A ENSP00000507751.1:p.Val1012Glu
ENST00000683220.1:c.3062T>A ENSP00000507151.1:p.Val1021Glu
ENST00000683236.1:c.362T>A ENSP00000506891.1:n.362T>A
ENST00000683329.1:n.3835T>A
ENST00000683346.1:c.*2907T>A ENSP00000507458.1:n.*2907T>A
ENST00000683409.1:n.1639T>A
ENST00000683459.1:n.3619T>A
ENST00000683590.1:c.2897-5705T>A ENSP00000506820.1:n.2897-5705T>A
ENST00000683623.1:c.2939T>A ENSP00000507702.1:p.Val980Glu
ENST00000683645.1:n.3583T>A
ENST00000683796.1:c.*2904T>A ENSP00000508221.1:n.*2904T>A
ENST00000683802.1:n.5957T>A
ENST00000683833.1:c.3023T>A ENSP00000506852.1:p.Val1008Glu
ENST00000683994.1:c.3032T>A ENSP00000507181.1:p.Val1011Glu
ENST00000684290.1:c.*568T>A ENSP00000507243.1:n.*568T>A
ENST00000684306.1:c.*2945T>A ENSP00000508384.1:n.*2945T>A
ENST00000684341.1:n.3052T>A
ENST00000684383.1:c.*2670T>A ENSP00000506863.1:n.*2670T>A
ENST00000684619.1:c.*2904T>A ENSP00000508088.1:n.*2904T>A
ENST00000684705.1:n.153T>A
ENST00000684743.1:n.4063T>A
ENST00000260665.12:c.3032T>A MANE Select ENSP00000260665.7:p.Val1011Glu
ENST00000260665.11:c.3032T>A ENSP00000260665.7:p.Val1011Glu
NM_133259.3:c.3032T>A NP_573566.2:p.Val1011Glu
XM_006711915.2:c.2954T>A XP_006711978.1:p.Val985Glu
XM_006711916.2:c.3032T>A XP_006711979.1:p.Val1011Glu
XM_011532473.1:c.3032T>A XP_011530775.1:p.Val1011Glu
XM_011532474.1:c.3032T>A XP_011530776.1:p.Val1011Glu
XM_006711916.3:c.3032T>A XP_006711979.1:p.Val1011Glu
XM_017003117.1:c.2954T>A XP_016858606.1:p.Val985Glu
XR_002958896.1:n.3074T>A
NM_133259.4:c.3032T>A MANE Select NP_573566.2:p.Val1011Glu