Canonical Allele Identifier: CA46434777
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1051431558

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905742G>T , CM000664.2:g.43905742G>T GRCh38
NC_000002.11:g.44132881G>T , CM000664.1:g.44132881G>T GRCh37
NC_000002.10:g.43986385G>T NCBI36
NG_008247.1:g.95264C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.393C>A
ENST00000681993.1:n.866C>A
ENST00000682295.1:c.469C>A ENSP00000507499.1:n.469C>A
ENST00000682303.1:c.*3100C>A ENSP00000508325.1:n.*3100C>A
ENST00000682308.1:c.3314C>A ENSP00000507056.1:p.Ala1105Asp
ENST00000682480.1:c.3332C>A ENSP00000508344.1:p.Ala1111Asp
ENST00000682546.1:c.3311C>A ENSP00000508188.1:p.Ala1104Asp
ENST00000682585.1:c.3314C>A ENSP00000506885.1:p.Ala1105Asp
ENST00000682595.1:n.3898C>A
ENST00000682607.1:c.1732C>A
ENST00000682612.1:c.166C>A
ENST00000682779.1:c.3305C>A ENSP00000507947.1:p.Ala1102Asp
ENST00000682845.1:n.2416C>A
ENST00000682885.1:c.3269C>A ENSP00000508036.1:p.Ala1090Asp
ENST00000682933.1:n.3388C>A
ENST00000683002.1:c.166C>A
ENST00000683072.1:n.3898C>A
ENST00000683080.1:n.933C>A
ENST00000683125.1:c.3422C>A ENSP00000507939.1:p.Ala1141Asp
ENST00000683213.1:c.3317C>A ENSP00000507751.1:p.Ala1106Asp
ENST00000683220.1:c.3344C>A ENSP00000507151.1:p.Ala1115Asp
ENST00000683329.1:n.4117C>A
ENST00000683346.1:c.*3189C>A ENSP00000507458.1:n.*3189C>A
ENST00000683409.1:n.1921C>A
ENST00000683459.1:n.3901C>A
ENST00000683528.1:c.166C>A
ENST00000683590.1:c.3062C>A ENSP00000506820.1:p.Ala1021Asp
ENST00000683623.1:c.3221C>A ENSP00000507702.1:p.Ala1074Asp
ENST00000683645.1:n.3865C>A
ENST00000683796.1:c.*3186C>A ENSP00000508221.1:n.*3186C>A
ENST00000683802.1:n.6239C>A
ENST00000683833.1:c.3305C>A ENSP00000506852.1:p.Ala1102Asp
ENST00000683994.1:c.3314C>A ENSP00000507181.1:p.Ala1105Asp
ENST00000684290.1:c.*850C>A ENSP00000507243.1:n.*850C>A
ENST00000684306.1:c.*3227C>A ENSP00000508384.1:n.*3227C>A
ENST00000684341.1:n.3334C>A
ENST00000684383.1:c.*2952C>A ENSP00000506863.1:n.*2952C>A
ENST00000684418.1:n.4495C>A
ENST00000684454.1:n.2664C>A
ENST00000684619.1:c.*3186C>A ENSP00000508088.1:n.*3186C>A
ENST00000684743.1:n.4345C>A
ENST00000260665.12:c.3314C>A MANE Select ENSP00000260665.7:p.Ala1105Asp
ENST00000260665.11:c.3314C>A ENSP00000260665.7:p.Ala1105Asp
NM_133259.3:c.3314C>A NP_573566.2:p.Ala1105Asp
XM_006711915.2:c.3236C>A XP_006711978.1:p.Ala1079Asp
XM_011532473.1:c.3314C>A XP_011530775.1:p.Ala1105Asp
XM_011532474.1:c.3314C>A XP_011530776.1:p.Ala1105Asp
XM_017003117.1:c.3236C>A XP_016858606.1:p.Ala1079Asp
XR_002958896.1:n.3356C>A
NM_133259.4:c.3314C>A MANE Select NP_573566.2:p.Ala1105Asp