Canonical Allele Identifier: CA346668666
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918385G>T , CM000664.2:g.43918385G>T GRCh38
NC_000002.11:g.44145524G>T , CM000664.1:g.44145524G>T GRCh37
NC_000002.10:g.43999028G>T NCBI36
NG_008247.1:g.82621C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.462C>A
ENST00000682295.1:c.174C>A ENSP00000507499.1:p.Asp58Glu
ENST00000682303.1:c.*2696C>A ENSP00000508325.1:n.*2696C>A
ENST00000682308.1:c.2910C>A ENSP00000507056.1:p.Asp970Glu
ENST00000682480.1:c.2910C>A ENSP00000508344.1:p.Asp970Glu
ENST00000682546.1:c.2907C>A ENSP00000508188.1:p.Asp969Glu
ENST00000682585.1:c.2910C>A ENSP00000506885.1:p.Asp970Glu
ENST00000682595.1:n.3494C>A
ENST00000682607.1:c.1328C>A
ENST00000682779.1:c.2901C>A ENSP00000507947.1:p.Asp967Glu
ENST00000682845.1:n.2012C>A
ENST00000682885.1:c.2865C>A ENSP00000508036.1:p.Asp955Glu
ENST00000682933.1:n.2984C>A
ENST00000683072.1:n.3494C>A
ENST00000683080.1:n.529C>A
ENST00000683125.1:c.3018C>A ENSP00000507939.1:p.Asp1006Glu
ENST00000683213.1:c.2913C>A ENSP00000507751.1:p.Asp971Glu
ENST00000683220.1:c.2940C>A ENSP00000507151.1:p.Asp980Glu
ENST00000683236.1:c.240C>A ENSP00000506891.1:n.240C>A
ENST00000683329.1:n.3713C>A
ENST00000683346.1:c.*2785C>A ENSP00000507458.1:n.*2785C>A
ENST00000683409.1:n.1517C>A
ENST00000683459.1:n.3497C>A
ENST00000683590.1:c.2897-5827C>A ENSP00000506820.1:n.2897-5827C>A
ENST00000683623.1:c.2817C>A ENSP00000507702.1:p.Asp939Glu
ENST00000683645.1:n.3461C>A
ENST00000683796.1:c.*2782C>A ENSP00000508221.1:n.*2782C>A
ENST00000683802.1:n.5835C>A
ENST00000683833.1:c.2901C>A ENSP00000506852.1:p.Asp967Glu
ENST00000683994.1:c.2910C>A ENSP00000507181.1:p.Asp970Glu
ENST00000684290.1:c.*446C>A ENSP00000507243.1:n.*446C>A
ENST00000684306.1:c.*2823C>A ENSP00000508384.1:n.*2823C>A
ENST00000684341.1:n.2930C>A
ENST00000684383.1:c.*2548C>A ENSP00000506863.1:n.*2548C>A
ENST00000684619.1:c.*2782C>A ENSP00000508088.1:n.*2782C>A
ENST00000684705.1:n.31C>A
ENST00000684743.1:n.3941C>A
ENST00000260665.12:c.2910C>A MANE Select ENSP00000260665.7:p.Asp970Glu
ENST00000260665.11:c.2910C>A ENSP00000260665.7:p.Asp970Glu
NM_133259.3:c.2910C>A NP_573566.2:p.Asp970Glu
XM_006711915.2:c.2832C>A XP_006711978.1:p.Asp944Glu
XM_006711916.2:c.2910C>A XP_006711979.1:p.Asp970Glu
XM_011532473.1:c.2910C>A XP_011530775.1:p.Asp970Glu
XM_011532474.1:c.2910C>A XP_011530776.1:p.Asp970Glu
XM_006711916.3:c.2910C>A XP_006711979.1:p.Asp970Glu
XM_017003117.1:c.2832C>A XP_016858606.1:p.Asp944Glu
XR_002958896.1:n.2952C>A
NM_133259.4:c.2910C>A MANE Select NP_573566.2:p.Asp970Glu