Canonical Allele Identifier: CA346676748
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899324C>T , CM000664.2:g.43899324C>T GRCh38
NC_000002.11:g.44126463C>T , CM000664.1:g.44126463C>T GRCh37
NC_000002.10:g.43979967C>T NCBI36
NG_008247.1:g.101682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.151G>A
ENST00000472420.6:n.799G>A
ENST00000483489.2:n.151G>A
ENST00000681993.1:n.1272G>A
ENST00000682303.1:c.*3506G>A ENSP00000508325.1:n.*3506G>A
ENST00000682308.1:c.3720G>A ENSP00000507056.1:p.Met1240Ile
ENST00000682434.1:n.1271G>A
ENST00000682480.1:c.3738G>A ENSP00000508344.1:p.Met1246Ile
ENST00000682546.1:c.3717G>A ENSP00000508188.1:p.Met1239Ile
ENST00000682585.1:c.3720G>A ENSP00000506885.1:p.Met1240Ile
ENST00000682595.1:n.4304G>A
ENST00000682607.1:c.2138G>A
ENST00000682612.1:c.572G>A
ENST00000682779.1:c.3711G>A ENSP00000507947.1:p.Met1237Ile
ENST00000682845.1:n.2822G>A
ENST00000682885.1:c.3675G>A ENSP00000508036.1:p.Met1225Ile
ENST00000682933.1:n.3794G>A
ENST00000683002.1:c.572G>A
ENST00000683072.1:n.4304G>A
ENST00000683080.1:n.1339G>A
ENST00000683125.1:c.3828G>A ENSP00000507939.1:p.Met1276Ile
ENST00000683213.1:c.3723G>A ENSP00000507751.1:p.Met1241Ile
ENST00000683220.1:c.3750G>A ENSP00000507151.1:p.Met1250Ile
ENST00000683329.1:n.4523G>A
ENST00000683346.1:c.*3595G>A ENSP00000507458.1:n.*3595G>A
ENST00000683409.1:n.2327G>A
ENST00000683459.1:n.4307G>A
ENST00000683528.1:c.648G>A
ENST00000683590.1:c.3468G>A ENSP00000506820.1:p.Met1156Ile
ENST00000683623.1:c.3627G>A ENSP00000507702.1:p.Met1209Ile
ENST00000683645.1:n.4271G>A
ENST00000683796.1:c.*3592G>A ENSP00000508221.1:n.*3592G>A
ENST00000683802.1:n.6645G>A
ENST00000683833.1:c.3711G>A ENSP00000506852.1:p.Met1237Ile
ENST00000683994.1:c.3720G>A ENSP00000507181.1:p.Met1240Ile
ENST00000684290.1:c.*1256G>A ENSP00000507243.1:n.*1256G>A
ENST00000684306.1:c.*3633G>A ENSP00000508384.1:n.*3633G>A
ENST00000684341.1:n.3740G>A
ENST00000684383.1:c.*3358G>A ENSP00000506863.1:n.*3358G>A
ENST00000684418.1:n.4901G>A
ENST00000684433.1:n.104G>A
ENST00000684454.1:n.3070G>A
ENST00000684619.1:c.*3592G>A ENSP00000508088.1:n.*3592G>A
ENST00000684743.1:n.6465G>A
ENST00000260665.12:c.3720G>A MANE Select ENSP00000260665.7:p.Met1240Ile
ENST00000260665.11:c.3720G>A ENSP00000260665.7:p.Met1240Ile
ENST00000463456.5:n.2763G>A
ENST00000472420.5:n.117G>A
ENST00000483489.1:n.194G>A
NM_133259.3:c.3720G>A NP_573566.2:p.Met1240Ile
XM_006711915.2:c.3642G>A XP_006711978.1:p.Met1214Ile
XM_011532473.1:c.3720G>A XP_011530775.1:p.Met1240Ile
XM_011532474.1:c.3720G>A XP_011530776.1:p.Met1240Ile
XM_017003117.1:c.3642G>A XP_016858606.1:p.Met1214Ile
XR_002958896.1:n.3762G>A
NM_133259.4:c.3720G>A MANE Select NP_573566.2:p.Met1240Ile