Canonical Allele Identifier: CA346674841
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43894595G>T , CM000664.2:g.43894595G>T GRCh38
NC_000002.11:g.44121734G>T , CM000664.1:g.44121734G>T GRCh37
NC_000002.10:g.43975238G>T NCBI36
NG_008247.1:g.106411C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.565C>A
ENST00000681993.1:n.1487C>A
ENST00000682154.1:n.1369C>A
ENST00000682303.1:c.*3646C>A ENSP00000508325.1:n.*3646C>A
ENST00000682308.1:c.3860C>A ENSP00000507056.1:p.Pro1287His
ENST00000682434.1:n.3490C>A
ENST00000682480.1:c.3953C>A ENSP00000508344.1:p.Pro1318His
ENST00000682546.1:c.3932C>A ENSP00000508188.1:p.Pro1311His
ENST00000682585.1:c.*63C>A ENSP00000506885.1:n.*63C>A
ENST00000682607.1:c.2678C>A
ENST00000682612.1:c.752+2039C>A
ENST00000682696.1:c.35C>A ENSP00000508411.1:p.Pro12His
ENST00000682779.1:c.3926C>A ENSP00000507947.1:p.Pro1309His
ENST00000682885.1:c.3890C>A ENSP00000508036.1:p.Pro1297His
ENST00000682933.1:n.4135C>A
ENST00000683002.1:c.787C>A
ENST00000683072.1:n.4519C>A
ENST00000683080.1:n.1554C>A
ENST00000683096.1:n.2376C>A
ENST00000683125.1:c.4043C>A ENSP00000507939.1:p.Pro1348His
ENST00000683213.1:c.3938C>A ENSP00000507751.1:p.Pro1313His
ENST00000683220.1:c.3965C>A ENSP00000507151.1:p.Pro1322His
ENST00000683329.1:n.4738C>A
ENST00000683346.1:c.*3810C>A ENSP00000507458.1:n.*3810C>A
ENST00000683409.1:n.2467C>A
ENST00000683459.1:n.4522C>A
ENST00000683590.1:c.3608C>A ENSP00000506820.1:p.Pro1203His
ENST00000683623.1:c.3842C>A ENSP00000507702.1:p.Pro1281His
ENST00000683796.1:c.*3732C>A ENSP00000508221.1:n.*3732C>A
ENST00000683833.1:c.3851C>A ENSP00000506852.1:p.Pro1284His
ENST00000683994.1:c.*48C>A ENSP00000507181.1:n.*48C>A
ENST00000684290.1:c.*1396C>A ENSP00000507243.1:n.*1396C>A
ENST00000684306.1:c.*3848C>A ENSP00000508384.1:n.*3848C>A
ENST00000684383.1:c.*3573C>A ENSP00000506863.1:n.*3573C>A
ENST00000684418.1:n.5116C>A
ENST00000684433.1:n.319C>A
ENST00000684454.1:n.7799C>A
ENST00000684619.1:c.*3807C>A ENSP00000508088.1:n.*3807C>A
ENST00000684743.1:n.6680C>A
ENST00000260665.12:c.3935C>A MANE Select ENSP00000260665.7:p.Pro1312His
ENST00000260665.11:c.3935C>A ENSP00000260665.7:p.Pro1312His
ENST00000419884.5:c.176C>A ENSP00000414207.1:p.Pro59His
ENST00000463456.5:n.2978C>A
NM_133259.3:c.3935C>A NP_573566.2:p.Pro1312His
XM_006711915.2:c.3857C>A XP_006711978.1:p.Pro1286His
XM_011532473.1:c.3860C>A XP_011530775.1:p.Pro1287His
XM_011532474.1:c.3935C>A XP_011530776.1:p.Pro1312His
XM_017003117.1:c.3782C>A XP_016858606.1:p.Pro1261His
XR_002958896.1:n.3977C>A
NM_133259.4:c.3935C>A MANE Select NP_573566.2:p.Pro1312His