Canonical Allele Identifier: CA346674940
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43894622G>C , CM000664.2:g.43894622G>C GRCh38
NC_000002.11:g.44121761G>C , CM000664.1:g.44121761G>C GRCh37
NC_000002.10:g.43975265G>C NCBI36
NG_008247.1:g.106384C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.538C>G
ENST00000681993.1:n.1460C>G
ENST00000682154.1:n.1342C>G
ENST00000682303.1:c.*3619C>G ENSP00000508325.1:n.*3619C>G
ENST00000682308.1:c.3833C>G ENSP00000507056.1:p.Thr1278Ser
ENST00000682434.1:n.3463C>G
ENST00000682480.1:c.3926C>G ENSP00000508344.1:p.Thr1309Ser
ENST00000682546.1:c.3905C>G ENSP00000508188.1:p.Thr1302Ser
ENST00000682585.1:c.*36C>G ENSP00000506885.1:n.*36C>G
ENST00000682607.1:c.2651C>G
ENST00000682612.1:c.752+2012C>G
ENST00000682696.1:c.8C>G ENSP00000508411.1:p.Thr3Ser
ENST00000682779.1:c.3899C>G ENSP00000507947.1:p.Thr1300Ser
ENST00000682885.1:c.3863C>G ENSP00000508036.1:p.Thr1288Ser
ENST00000682933.1:n.4108C>G
ENST00000683002.1:c.760C>G
ENST00000683072.1:n.4492C>G
ENST00000683080.1:n.1527C>G
ENST00000683096.1:n.2349C>G
ENST00000683125.1:c.4016C>G ENSP00000507939.1:p.Thr1339Ser
ENST00000683213.1:c.3911C>G ENSP00000507751.1:p.Thr1304Ser
ENST00000683220.1:c.3938C>G ENSP00000507151.1:p.Thr1313Ser
ENST00000683329.1:n.4711C>G
ENST00000683346.1:c.*3783C>G ENSP00000507458.1:n.*3783C>G
ENST00000683409.1:n.2440C>G
ENST00000683459.1:n.4495C>G
ENST00000683590.1:c.3581C>G ENSP00000506820.1:p.Thr1194Ser
ENST00000683623.1:c.3815C>G ENSP00000507702.1:p.Thr1272Ser
ENST00000683796.1:c.*3705C>G ENSP00000508221.1:n.*3705C>G
ENST00000683833.1:c.3824C>G ENSP00000506852.1:p.Thr1275Ser
ENST00000683994.1:c.*21C>G ENSP00000507181.1:n.*21C>G
ENST00000684290.1:c.*1369C>G ENSP00000507243.1:n.*1369C>G
ENST00000684306.1:c.*3821C>G ENSP00000508384.1:n.*3821C>G
ENST00000684383.1:c.*3546C>G ENSP00000506863.1:n.*3546C>G
ENST00000684418.1:n.5089C>G
ENST00000684433.1:n.292C>G
ENST00000684454.1:n.7772C>G
ENST00000684619.1:c.*3780C>G ENSP00000508088.1:n.*3780C>G
ENST00000684743.1:n.6653C>G
ENST00000260665.12:c.3908C>G MANE Select ENSP00000260665.7:p.Thr1303Ser
ENST00000260665.11:c.3908C>G ENSP00000260665.7:p.Thr1303Ser
ENST00000419884.5:c.149C>G ENSP00000414207.1:p.Thr50Ser
ENST00000463456.5:n.2951C>G
NM_133259.3:c.3908C>G NP_573566.2:p.Thr1303Ser
XM_006711915.2:c.3830C>G XP_006711978.1:p.Thr1277Ser
XM_011532473.1:c.3833C>G XP_011530775.1:p.Thr1278Ser
XM_011532474.1:c.3908C>G XP_011530776.1:p.Thr1303Ser
XM_017003117.1:c.3755C>G XP_016858606.1:p.Thr1252Ser
XR_002958896.1:n.3950C>G
NM_133259.4:c.3908C>G MANE Select NP_573566.2:p.Thr1303Ser