Canonical Allele Identifier: CA346665057
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905746C>A , CM000664.2:g.43905746C>A GRCh38
NC_000002.11:g.44132885C>A , CM000664.1:g.44132885C>A GRCh37
NC_000002.10:g.43986389C>A NCBI36
NG_008247.1:g.95260G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.389G>T
ENST00000681993.1:n.862G>T
ENST00000682295.1:c.465G>T ENSP00000507499.1:n.465G>T
ENST00000682303.1:c.*3096G>T ENSP00000508325.1:n.*3096G>T
ENST00000682308.1:c.3310G>T ENSP00000507056.1:p.Asp1104Tyr
ENST00000682480.1:c.3328G>T ENSP00000508344.1:p.Asp1110Tyr
ENST00000682546.1:c.3307G>T ENSP00000508188.1:p.Asp1103Tyr
ENST00000682585.1:c.3310G>T ENSP00000506885.1:p.Asp1104Tyr
ENST00000682595.1:n.3894G>T
ENST00000682607.1:c.1728G>T
ENST00000682612.1:c.162G>T
ENST00000682779.1:c.3301G>T ENSP00000507947.1:p.Asp1101Tyr
ENST00000682845.1:n.2412G>T
ENST00000682885.1:c.3265G>T ENSP00000508036.1:p.Asp1089Tyr
ENST00000682933.1:n.3384G>T
ENST00000683002.1:c.162G>T
ENST00000683072.1:n.3894G>T
ENST00000683080.1:n.929G>T
ENST00000683125.1:c.3418G>T ENSP00000507939.1:p.Asp1140Tyr
ENST00000683213.1:c.3313G>T ENSP00000507751.1:p.Asp1105Tyr
ENST00000683220.1:c.3340G>T ENSP00000507151.1:p.Asp1114Tyr
ENST00000683329.1:n.4113G>T
ENST00000683346.1:c.*3185G>T ENSP00000507458.1:n.*3185G>T
ENST00000683409.1:n.1917G>T
ENST00000683459.1:n.3897G>T
ENST00000683528.1:c.162G>T
ENST00000683590.1:c.3058G>T ENSP00000506820.1:p.Asp1020Tyr
ENST00000683623.1:c.3217G>T ENSP00000507702.1:p.Asp1073Tyr
ENST00000683645.1:n.3861G>T
ENST00000683796.1:c.*3182G>T ENSP00000508221.1:n.*3182G>T
ENST00000683802.1:n.6235G>T
ENST00000683833.1:c.3301G>T ENSP00000506852.1:p.Asp1101Tyr
ENST00000683994.1:c.3310G>T ENSP00000507181.1:p.Asp1104Tyr
ENST00000684290.1:c.*846G>T ENSP00000507243.1:n.*846G>T
ENST00000684306.1:c.*3223G>T ENSP00000508384.1:n.*3223G>T
ENST00000684341.1:n.3330G>T
ENST00000684383.1:c.*2948G>T ENSP00000506863.1:n.*2948G>T
ENST00000684418.1:n.4491G>T
ENST00000684454.1:n.2660G>T
ENST00000684619.1:c.*3182G>T ENSP00000508088.1:n.*3182G>T
ENST00000684743.1:n.4341G>T
ENST00000260665.12:c.3310G>T MANE Select ENSP00000260665.7:p.Asp1104Tyr
ENST00000260665.11:c.3310G>T ENSP00000260665.7:p.Asp1104Tyr
NM_133259.3:c.3310G>T NP_573566.2:p.Asp1104Tyr
XM_006711915.2:c.3232G>T XP_006711978.1:p.Asp1078Tyr
XM_011532473.1:c.3310G>T XP_011530775.1:p.Asp1104Tyr
XM_011532474.1:c.3310G>T XP_011530776.1:p.Asp1104Tyr
XM_017003117.1:c.3232G>T XP_016858606.1:p.Asp1078Tyr
XR_002958896.1:n.3352G>T
NM_133259.4:c.3310G>T MANE Select NP_573566.2:p.Asp1104Tyr