Canonical Allele Identifier: CA346664993
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905730C>G , CM000664.2:g.43905730C>G GRCh38
NC_000002.11:g.44132869C>G , CM000664.1:g.44132869C>G GRCh37
NC_000002.10:g.43986373C>G NCBI36
NG_008247.1:g.95276G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.405G>C
ENST00000681993.1:n.878G>C
ENST00000682295.1:c.481G>C ENSP00000507499.1:n.481G>C
ENST00000682303.1:c.*3112G>C ENSP00000508325.1:n.*3112G>C
ENST00000682308.1:c.3326G>C ENSP00000507056.1:p.Arg1109Pro
ENST00000682480.1:c.3344G>C ENSP00000508344.1:p.Arg1115Pro
ENST00000682546.1:c.3323G>C ENSP00000508188.1:p.Arg1108Pro
ENST00000682585.1:c.3326G>C ENSP00000506885.1:p.Arg1109Pro
ENST00000682595.1:n.3910G>C
ENST00000682607.1:c.1744G>C
ENST00000682612.1:c.178G>C
ENST00000682779.1:c.3317G>C ENSP00000507947.1:p.Arg1106Pro
ENST00000682845.1:n.2428G>C
ENST00000682885.1:c.3281G>C ENSP00000508036.1:p.Arg1094Pro
ENST00000682933.1:n.3400G>C
ENST00000683002.1:c.178G>C
ENST00000683072.1:n.3910G>C
ENST00000683080.1:n.945G>C
ENST00000683125.1:c.3434G>C ENSP00000507939.1:p.Arg1145Pro
ENST00000683213.1:c.3329G>C ENSP00000507751.1:p.Arg1110Pro
ENST00000683220.1:c.3356G>C ENSP00000507151.1:p.Arg1119Pro
ENST00000683329.1:n.4129G>C
ENST00000683346.1:c.*3201G>C ENSP00000507458.1:n.*3201G>C
ENST00000683409.1:n.1933G>C
ENST00000683459.1:n.3913G>C
ENST00000683528.1:c.178G>C
ENST00000683590.1:c.3074G>C ENSP00000506820.1:p.Arg1025Pro
ENST00000683623.1:c.3233G>C ENSP00000507702.1:p.Arg1078Pro
ENST00000683645.1:n.3877G>C
ENST00000683796.1:c.*3198G>C ENSP00000508221.1:n.*3198G>C
ENST00000683802.1:n.6251G>C
ENST00000683833.1:c.3317G>C ENSP00000506852.1:p.Arg1106Pro
ENST00000683994.1:c.3326G>C ENSP00000507181.1:p.Arg1109Pro
ENST00000684290.1:c.*862G>C ENSP00000507243.1:n.*862G>C
ENST00000684306.1:c.*3239G>C ENSP00000508384.1:n.*3239G>C
ENST00000684341.1:n.3346G>C
ENST00000684383.1:c.*2964G>C ENSP00000506863.1:n.*2964G>C
ENST00000684418.1:n.4507G>C
ENST00000684454.1:n.2676G>C
ENST00000684619.1:c.*3198G>C ENSP00000508088.1:n.*3198G>C
ENST00000684743.1:n.4357G>C
ENST00000260665.12:c.3326G>C MANE Select ENSP00000260665.7:p.Arg1109Pro
ENST00000260665.11:c.3326G>C ENSP00000260665.7:p.Arg1109Pro
NM_133259.3:c.3326G>C NP_573566.2:p.Arg1109Pro
XM_006711915.2:c.3248G>C XP_006711978.1:p.Arg1083Pro
XM_011532473.1:c.3326G>C XP_011530775.1:p.Arg1109Pro
XM_011532474.1:c.3326G>C XP_011530776.1:p.Arg1109Pro
XM_017003117.1:c.3248G>C XP_016858606.1:p.Arg1083Pro
XR_002958896.1:n.3368G>C
NM_133259.4:c.3326G>C MANE Select NP_573566.2:p.Arg1109Pro