Canonical Allele Identifier: CA346664983
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905727A>C , CM000664.2:g.43905727A>C GRCh38
NC_000002.11:g.44132866A>C , CM000664.1:g.44132866A>C GRCh37
NC_000002.10:g.43986370A>C NCBI36
NG_008247.1:g.95279T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.408T>G
ENST00000681993.1:n.881T>G
ENST00000682295.1:c.484T>G ENSP00000507499.1:n.484T>G
ENST00000682303.1:c.*3115T>G ENSP00000508325.1:n.*3115T>G
ENST00000682308.1:c.3329T>G ENSP00000507056.1:p.Leu1110Arg
ENST00000682480.1:c.3347T>G ENSP00000508344.1:p.Leu1116Arg
ENST00000682546.1:c.3326T>G ENSP00000508188.1:p.Leu1109Arg
ENST00000682585.1:c.3329T>G ENSP00000506885.1:p.Leu1110Arg
ENST00000682595.1:n.3913T>G
ENST00000682607.1:c.1747T>G
ENST00000682612.1:c.181T>G
ENST00000682779.1:c.3320T>G ENSP00000507947.1:p.Leu1107Arg
ENST00000682845.1:n.2431T>G
ENST00000682885.1:c.3284T>G ENSP00000508036.1:p.Leu1095Arg
ENST00000682933.1:n.3403T>G
ENST00000683002.1:c.181T>G
ENST00000683072.1:n.3913T>G
ENST00000683080.1:n.948T>G
ENST00000683125.1:c.3437T>G ENSP00000507939.1:p.Leu1146Arg
ENST00000683213.1:c.3332T>G ENSP00000507751.1:p.Leu1111Arg
ENST00000683220.1:c.3359T>G ENSP00000507151.1:p.Leu1120Arg
ENST00000683329.1:n.4132T>G
ENST00000683346.1:c.*3204T>G ENSP00000507458.1:n.*3204T>G
ENST00000683409.1:n.1936T>G
ENST00000683459.1:n.3916T>G
ENST00000683528.1:c.181T>G
ENST00000683590.1:c.3077T>G ENSP00000506820.1:p.Leu1026Arg
ENST00000683623.1:c.3236T>G ENSP00000507702.1:p.Leu1079Arg
ENST00000683645.1:n.3880T>G
ENST00000683796.1:c.*3201T>G ENSP00000508221.1:n.*3201T>G
ENST00000683802.1:n.6254T>G
ENST00000683833.1:c.3320T>G ENSP00000506852.1:p.Leu1107Arg
ENST00000683994.1:c.3329T>G ENSP00000507181.1:p.Leu1110Arg
ENST00000684290.1:c.*865T>G ENSP00000507243.1:n.*865T>G
ENST00000684306.1:c.*3242T>G ENSP00000508384.1:n.*3242T>G
ENST00000684341.1:n.3349T>G
ENST00000684383.1:c.*2967T>G ENSP00000506863.1:n.*2967T>G
ENST00000684418.1:n.4510T>G
ENST00000684454.1:n.2679T>G
ENST00000684619.1:c.*3201T>G ENSP00000508088.1:n.*3201T>G
ENST00000684743.1:n.4360T>G
ENST00000260665.12:c.3329T>G MANE Select ENSP00000260665.7:p.Leu1110Arg
ENST00000260665.11:c.3329T>G ENSP00000260665.7:p.Leu1110Arg
NM_133259.3:c.3329T>G NP_573566.2:p.Leu1110Arg
XM_006711915.2:c.3251T>G XP_006711978.1:p.Leu1084Arg
XM_011532473.1:c.3329T>G XP_011530775.1:p.Leu1110Arg
XM_011532474.1:c.3329T>G XP_011530776.1:p.Leu1110Arg
XM_017003117.1:c.3251T>G XP_016858606.1:p.Leu1084Arg
XR_002958896.1:n.3371T>G
NM_133259.4:c.3329T>G MANE Select NP_573566.2:p.Leu1110Arg