Canonical Allele Identifier: CA2658840930
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43948205-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43948205A>G , CM000664.2:g.43948205A>G GRCh38
NC_000002.11:g.44175344A>G , CM000664.1:g.44175344A>G GRCh37
NC_000002.10:g.44028848A>G NCBI36
NG_008247.1:g.52801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1843-6T>C ENSP00000386562.2:n.1843-6T>C
ENST00000447246.2:c.1843-6T>C ENSP00000403637.2:n.1843-6T>C
ENST00000467058.2:n.572-6T>C
ENST00000681959.1:n.1457-6T>C
ENST00000681961.1:n.1863-6T>C
ENST00000682104.1:c.1717-6T>C ENSP00000507716.1:n.1717-6T>C
ENST00000682303.1:c.*1715-6T>C ENSP00000508325.1:n.*1715-6T>C
ENST00000682308.1:c.1843-6T>C ENSP00000507056.1:n.1843-6T>C
ENST00000682480.1:c.1843-6T>C ENSP00000508344.1:n.1843-6T>C
ENST00000682546.1:c.1840-6T>C ENSP00000508188.1:n.1840-6T>C
ENST00000682585.1:c.1843-6T>C ENSP00000506885.1:n.1843-6T>C
ENST00000682595.1:n.2425-6T>C
ENST00000682607.1:c.261-6T>C
ENST00000682779.1:c.1834-6T>C ENSP00000507947.1:n.1834-6T>C
ENST00000682885.1:c.1843-6T>C ENSP00000508036.1:n.1843-6T>C
ENST00000682933.1:n.1917-6T>C
ENST00000683072.1:n.2425-6T>C
ENST00000683082.1:n.1861-6T>C
ENST00000683125.1:c.1843-6T>C ENSP00000507939.1:n.1843-6T>C
ENST00000683213.1:c.1846-6T>C ENSP00000507751.1:n.1846-6T>C
ENST00000683220.1:c.1873-6T>C ENSP00000507151.1:n.1873-6T>C
ENST00000683329.1:n.2646-6T>C
ENST00000683346.1:c.*1718-6T>C ENSP00000507458.1:n.*1718-6T>C
ENST00000683459.1:n.2430-6T>C
ENST00000683590.1:c.1843-6T>C ENSP00000506820.1:n.1843-6T>C
ENST00000683623.1:c.1843-6T>C ENSP00000507702.1:n.1843-6T>C
ENST00000683645.1:n.2388T>C
ENST00000683694.1:n.594-6T>C
ENST00000683796.1:c.*1715-6T>C ENSP00000508221.1:n.*1715-6T>C
ENST00000683802.1:n.4768-6T>C
ENST00000683833.1:c.1834-6T>C ENSP00000506852.1:n.1834-6T>C
ENST00000683934.1:c.1729-6T>C
ENST00000683989.1:c.1843-6T>C ENSP00000507510.1:n.1843-6T>C
ENST00000683994.1:c.1843-6T>C ENSP00000507181.1:n.1843-6T>C
ENST00000684290.1:c.1843-6T>C ENSP00000507243.1:n.1843-6T>C
ENST00000684306.1:c.*1756-6T>C ENSP00000508384.1:n.*1756-6T>C
ENST00000684341.1:n.1863-6T>C
ENST00000684383.1:c.*1481-6T>C ENSP00000506863.1:n.*1481-6T>C
ENST00000684482.1:c.4312-6T>C
ENST00000684619.1:c.*1715-6T>C ENSP00000508088.1:n.*1715-6T>C
ENST00000684743.1:n.2874-6T>C
ENST00000260665.12:c.1843-6T>C MANE Select ENSP00000260665.7:n.1843-6T>C
ENST00000260665.11:c.1843-6T>C ENSP00000260665.7:n.1843-6T>C
NM_133259.3:c.1843-6T>C NP_573566.2:n.1843-6T>C
XM_006711915.2:c.1765-6T>C XP_006711978.1:n.1765-6T>C
XM_006711916.2:c.1843-6T>C XP_006711979.1:n.1843-6T>C
XM_011532473.1:c.1843-6T>C XP_011530775.1:n.1843-6T>C
XM_011532474.1:c.1843-6T>C XP_011530776.1:n.1843-6T>C
XM_006711916.3:c.1843-6T>C XP_006711979.1:n.1843-6T>C
XM_017003117.1:c.1765-6T>C XP_016858606.1:n.1765-6T>C
XR_002958896.1:n.1885-6T>C
NM_133259.4:c.1843-6T>C MANE Select NP_573566.2:n.1843-6T>C