Canonical Allele Identifier: CA2658841172
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43948315-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43948315G>C , CM000664.2:g.43948315G>C GRCh38
NC_000002.11:g.44175454G>C , CM000664.1:g.44175454G>C GRCh37
NC_000002.10:g.44028958G>C NCBI36
NG_008247.1:g.52691C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1842+97C>G ENSP00000386562.2:n.1842+97C>G
ENST00000447246.2:c.1842+97C>G ENSP00000403637.2:n.1842+97C>G
ENST00000467058.2:n.571+97C>G
ENST00000681959.1:n.1456+97C>G
ENST00000681961.1:n.1862+97C>G
ENST00000682104.1:c.1716+97C>G ENSP00000507716.1:n.1716+97C>G
ENST00000682303.1:c.*1714+97C>G ENSP00000508325.1:n.*1714+97C>G
ENST00000682308.1:c.1842+97C>G ENSP00000507056.1:n.1842+97C>G
ENST00000682480.1:c.1842+97C>G ENSP00000508344.1:n.1842+97C>G
ENST00000682546.1:c.1839+97C>G ENSP00000508188.1:n.1839+97C>G
ENST00000682585.1:c.1842+97C>G ENSP00000506885.1:n.1842+97C>G
ENST00000682595.1:n.2424+97C>G
ENST00000682607.1:c.260+97C>G
ENST00000682779.1:c.1833+97C>G ENSP00000507947.1:n.1833+97C>G
ENST00000682885.1:c.1842+97C>G ENSP00000508036.1:n.1842+97C>G
ENST00000682933.1:n.1916+97C>G
ENST00000683072.1:n.2424+97C>G
ENST00000683082.1:n.1860+97C>G
ENST00000683125.1:c.1842+97C>G ENSP00000507939.1:n.1842+97C>G
ENST00000683213.1:c.1845+97C>G ENSP00000507751.1:n.1845+97C>G
ENST00000683220.1:c.1872+97C>G ENSP00000507151.1:n.1872+97C>G
ENST00000683329.1:n.2645+97C>G
ENST00000683346.1:c.*1717+97C>G ENSP00000507458.1:n.*1717+97C>G
ENST00000683459.1:n.2429+97C>G
ENST00000683590.1:c.1842+97C>G ENSP00000506820.1:n.1842+97C>G
ENST00000683623.1:c.1842+97C>G ENSP00000507702.1:n.1842+97C>G
ENST00000683645.1:n.2363-85C>G
ENST00000683694.1:n.593+97C>G
ENST00000683796.1:c.*1714+97C>G ENSP00000508221.1:n.*1714+97C>G
ENST00000683802.1:n.4767+97C>G
ENST00000683833.1:c.1833+97C>G ENSP00000506852.1:n.1833+97C>G
ENST00000683934.1:c.1728+97C>G
ENST00000683989.1:c.1842+97C>G ENSP00000507510.1:n.1842+97C>G
ENST00000683994.1:c.1842+97C>G ENSP00000507181.1:n.1842+97C>G
ENST00000684290.1:c.1842+97C>G ENSP00000507243.1:n.1842+97C>G
ENST00000684306.1:c.*1755+97C>G ENSP00000508384.1:n.*1755+97C>G
ENST00000684341.1:n.1862+97C>G
ENST00000684383.1:c.*1480+97C>G ENSP00000506863.1:n.*1480+97C>G
ENST00000684482.1:c.4311+97C>G
ENST00000684619.1:c.*1714+97C>G ENSP00000508088.1:n.*1714+97C>G
ENST00000684743.1:n.2873+97C>G
ENST00000260665.12:c.1842+97C>G MANE Select ENSP00000260665.7:n.1842+97C>G
ENST00000260665.11:c.1842+97C>G ENSP00000260665.7:n.1842+97C>G
NM_133259.3:c.1842+97C>G NP_573566.2:n.1842+97C>G
XM_006711915.2:c.1764+97C>G XP_006711978.1:n.1764+97C>G
XM_006711916.2:c.1842+97C>G XP_006711979.1:n.1842+97C>G
XM_011532473.1:c.1842+97C>G XP_011530775.1:n.1842+97C>G
XM_011532474.1:c.1842+97C>G XP_011530776.1:n.1842+97C>G
XM_006711916.3:c.1842+97C>G XP_006711979.1:n.1842+97C>G
XM_017003117.1:c.1764+97C>G XP_016858606.1:n.1764+97C>G
XR_002958896.1:n.1884+97C>G
NM_133259.4:c.1842+97C>G MANE Select NP_573566.2:n.1842+97C>G