Canonical Allele Identifier: CA346668631
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918370A>C , CM000664.2:g.43918370A>C GRCh38
NC_000002.11:g.44145509A>C , CM000664.1:g.44145509A>C GRCh37
NC_000002.10:g.43999013A>C NCBI36
NG_008247.1:g.82636T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.477T>G
ENST00000682295.1:c.189T>G ENSP00000507499.1:p.Asp63Glu
ENST00000682303.1:c.*2711T>G ENSP00000508325.1:n.*2711T>G
ENST00000682308.1:c.2925T>G ENSP00000507056.1:p.Asp975Glu
ENST00000682480.1:c.2925T>G ENSP00000508344.1:p.Asp975Glu
ENST00000682546.1:c.2922T>G ENSP00000508188.1:p.Asp974Glu
ENST00000682585.1:c.2925T>G ENSP00000506885.1:p.Asp975Glu
ENST00000682595.1:n.3509T>G
ENST00000682607.1:c.1343T>G
ENST00000682779.1:c.2916T>G ENSP00000507947.1:p.Asp972Glu
ENST00000682845.1:n.2027T>G
ENST00000682885.1:c.2880T>G ENSP00000508036.1:p.Asp960Glu
ENST00000682933.1:n.2999T>G
ENST00000683072.1:n.3509T>G
ENST00000683080.1:n.544T>G
ENST00000683125.1:c.3033T>G ENSP00000507939.1:p.Asp1011Glu
ENST00000683213.1:c.2928T>G ENSP00000507751.1:p.Asp976Glu
ENST00000683220.1:c.2955T>G ENSP00000507151.1:p.Asp985Glu
ENST00000683236.1:c.255T>G ENSP00000506891.1:n.255T>G
ENST00000683329.1:n.3728T>G
ENST00000683346.1:c.*2800T>G ENSP00000507458.1:n.*2800T>G
ENST00000683409.1:n.1532T>G
ENST00000683459.1:n.3512T>G
ENST00000683590.1:c.2897-5812T>G ENSP00000506820.1:n.2897-5812T>G
ENST00000683623.1:c.2832T>G ENSP00000507702.1:p.Asp944Glu
ENST00000683645.1:n.3476T>G
ENST00000683796.1:c.*2797T>G ENSP00000508221.1:n.*2797T>G
ENST00000683802.1:n.5850T>G
ENST00000683833.1:c.2916T>G ENSP00000506852.1:p.Asp972Glu
ENST00000683994.1:c.2925T>G ENSP00000507181.1:p.Asp975Glu
ENST00000684290.1:c.*461T>G ENSP00000507243.1:n.*461T>G
ENST00000684306.1:c.*2838T>G ENSP00000508384.1:n.*2838T>G
ENST00000684341.1:n.2945T>G
ENST00000684383.1:c.*2563T>G ENSP00000506863.1:n.*2563T>G
ENST00000684619.1:c.*2797T>G ENSP00000508088.1:n.*2797T>G
ENST00000684705.1:n.46T>G
ENST00000684743.1:n.3956T>G
ENST00000260665.12:c.2925T>G MANE Select ENSP00000260665.7:p.Asp975Glu
ENST00000260665.11:c.2925T>G ENSP00000260665.7:p.Asp975Glu
NM_133259.3:c.2925T>G NP_573566.2:p.Asp975Glu
XM_006711915.2:c.2847T>G XP_006711978.1:p.Asp949Glu
XM_006711916.2:c.2925T>G XP_006711979.1:p.Asp975Glu
XM_011532473.1:c.2925T>G XP_011530775.1:p.Asp975Glu
XM_011532474.1:c.2925T>G XP_011530776.1:p.Asp975Glu
XM_006711916.3:c.2925T>G XP_006711979.1:p.Asp975Glu
XM_017003117.1:c.2847T>G XP_016858606.1:p.Asp949Glu
XR_002958896.1:n.2967T>G
NM_133259.4:c.2925T>G MANE Select NP_573566.2:p.Asp975Glu