Canonical Allele Identifier: CA2658842724
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43948023-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43948023T>C , CM000664.2:g.43948023T>C GRCh38
NC_000002.11:g.44175162T>C , CM000664.1:g.44175162T>C GRCh37
NC_000002.10:g.44028666T>C NCBI36
NG_008247.1:g.52983A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409659.6:c.1920+99A>G ENSP00000386562.2:n.1920+99A>G
ENST00000447246.2:c.1920+99A>G ENSP00000403637.2:n.1920+99A>G
ENST00000681959.1:n.1534+99A>G
ENST00000681961.1:n.1940+99A>G
ENST00000682104.1:c.1794+99A>G ENSP00000507716.1:n.1794+99A>G
ENST00000682303.1:c.*1792+99A>G ENSP00000508325.1:n.*1792+99A>G
ENST00000682308.1:c.1920+99A>G ENSP00000507056.1:n.1920+99A>G
ENST00000682480.1:c.1920+99A>G ENSP00000508344.1:n.1920+99A>G
ENST00000682546.1:c.1917+99A>G ENSP00000508188.1:n.1917+99A>G
ENST00000682585.1:c.1920+99A>G ENSP00000506885.1:n.1920+99A>G
ENST00000682595.1:n.2502+99A>G
ENST00000682607.1:c.338+99A>G
ENST00000682779.1:c.1911+99A>G ENSP00000507947.1:n.1911+99A>G
ENST00000682885.1:c.1920+99A>G ENSP00000508036.1:n.1920+99A>G
ENST00000682933.1:n.1994+99A>G
ENST00000683072.1:n.2502+99A>G
ENST00000683082.1:n.2037A>G
ENST00000683125.1:c.1920+99A>G ENSP00000507939.1:n.1920+99A>G
ENST00000683213.1:c.1923+99A>G ENSP00000507751.1:n.1923+99A>G
ENST00000683220.1:c.1950+99A>G ENSP00000507151.1:n.1950+99A>G
ENST00000683329.1:n.2723+99A>G
ENST00000683346.1:c.*1795+99A>G ENSP00000507458.1:n.*1795+99A>G
ENST00000683459.1:n.2507+99A>G
ENST00000683590.1:c.1920+99A>G ENSP00000506820.1:n.1920+99A>G
ENST00000683623.1:c.1920+99A>G ENSP00000507702.1:n.1920+99A>G
ENST00000683645.1:n.2471+99A>G
ENST00000683694.1:n.671+99A>G
ENST00000683796.1:c.*1792+99A>G ENSP00000508221.1:n.*1792+99A>G
ENST00000683802.1:n.4845+99A>G
ENST00000683833.1:c.1911+99A>G ENSP00000506852.1:n.1911+99A>G
ENST00000683934.1:c.1806+99A>G
ENST00000683989.1:c.1920+99A>G ENSP00000507510.1:n.1920+99A>G
ENST00000683994.1:c.1920+99A>G ENSP00000507181.1:n.1920+99A>G
ENST00000684290.1:c.1920+99A>G ENSP00000507243.1:n.1920+99A>G
ENST00000684306.1:c.*1833+99A>G ENSP00000508384.1:n.*1833+99A>G
ENST00000684341.1:n.1940+99A>G
ENST00000684383.1:c.*1558+99A>G ENSP00000506863.1:n.*1558+99A>G
ENST00000684482.1:c.4389+99A>G
ENST00000684619.1:c.*1792+99A>G ENSP00000508088.1:n.*1792+99A>G
ENST00000684743.1:n.2951+99A>G
ENST00000260665.12:c.1920+99A>G MANE Select ENSP00000260665.7:n.1920+99A>G
ENST00000260665.11:c.1920+99A>G ENSP00000260665.7:n.1920+99A>G
NM_133259.3:c.1920+99A>G NP_573566.2:n.1920+99A>G
XM_006711915.2:c.1842+99A>G XP_006711978.1:n.1842+99A>G
XM_006711916.2:c.1920+99A>G XP_006711979.1:n.1920+99A>G
XM_011532473.1:c.1920+99A>G XP_011530775.1:n.1920+99A>G
XM_011532474.1:c.1920+99A>G XP_011530776.1:n.1920+99A>G
XM_006711916.3:c.1920+99A>G XP_006711979.1:n.1920+99A>G
XM_017003117.1:c.1842+99A>G XP_016858606.1:n.1842+99A>G
XR_002958896.1:n.1962+99A>G
NM_133259.4:c.1920+99A>G MANE Select NP_573566.2:n.1920+99A>G