Canonical Allele Identifier: CA2576954568
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43948341-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43948341G>T , CM000664.2:g.43948341G>T GRCh38
NC_000002.11:g.44175480G>T , CM000664.1:g.44175480G>T GRCh37
NC_000002.10:g.44028984G>T NCBI36
NG_008247.1:g.52665C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1842+71C>A ENSP00000386562.2:n.1842+71C>A
ENST00000447246.2:c.1842+71C>A ENSP00000403637.2:n.1842+71C>A
ENST00000467058.2:n.571+71C>A
ENST00000681959.1:n.1456+71C>A
ENST00000681961.1:n.1862+71C>A
ENST00000682104.1:c.1716+71C>A ENSP00000507716.1:n.1716+71C>A
ENST00000682303.1:c.*1714+71C>A ENSP00000508325.1:n.*1714+71C>A
ENST00000682308.1:c.1842+71C>A ENSP00000507056.1:n.1842+71C>A
ENST00000682480.1:c.1842+71C>A ENSP00000508344.1:n.1842+71C>A
ENST00000682546.1:c.1839+71C>A ENSP00000508188.1:n.1839+71C>A
ENST00000682585.1:c.1842+71C>A ENSP00000506885.1:n.1842+71C>A
ENST00000682595.1:n.2424+71C>A
ENST00000682607.1:c.260+71C>A
ENST00000682779.1:c.1833+71C>A ENSP00000507947.1:n.1833+71C>A
ENST00000682885.1:c.1842+71C>A ENSP00000508036.1:n.1842+71C>A
ENST00000682933.1:n.1916+71C>A
ENST00000683072.1:n.2424+71C>A
ENST00000683082.1:n.1860+71C>A
ENST00000683125.1:c.1842+71C>A ENSP00000507939.1:n.1842+71C>A
ENST00000683213.1:c.1845+71C>A ENSP00000507751.1:n.1845+71C>A
ENST00000683220.1:c.1872+71C>A ENSP00000507151.1:n.1872+71C>A
ENST00000683329.1:n.2645+71C>A
ENST00000683346.1:c.*1717+71C>A ENSP00000507458.1:n.*1717+71C>A
ENST00000683459.1:n.2429+71C>A
ENST00000683590.1:c.1842+71C>A ENSP00000506820.1:n.1842+71C>A
ENST00000683623.1:c.1842+71C>A ENSP00000507702.1:n.1842+71C>A
ENST00000683645.1:n.2362+71C>A
ENST00000683694.1:n.593+71C>A
ENST00000683796.1:c.*1714+71C>A ENSP00000508221.1:n.*1714+71C>A
ENST00000683802.1:n.4767+71C>A
ENST00000683833.1:c.1833+71C>A ENSP00000506852.1:n.1833+71C>A
ENST00000683934.1:c.1728+71C>A
ENST00000683989.1:c.1842+71C>A ENSP00000507510.1:n.1842+71C>A
ENST00000683994.1:c.1842+71C>A ENSP00000507181.1:n.1842+71C>A
ENST00000684290.1:c.1842+71C>A ENSP00000507243.1:n.1842+71C>A
ENST00000684306.1:c.*1755+71C>A ENSP00000508384.1:n.*1755+71C>A
ENST00000684341.1:n.1862+71C>A
ENST00000684383.1:c.*1480+71C>A ENSP00000506863.1:n.*1480+71C>A
ENST00000684482.1:c.4311+71C>A
ENST00000684619.1:c.*1714+71C>A ENSP00000508088.1:n.*1714+71C>A
ENST00000684743.1:n.2873+71C>A
ENST00000260665.12:c.1842+71C>A MANE Select ENSP00000260665.7:n.1842+71C>A
ENST00000260665.11:c.1842+71C>A ENSP00000260665.7:n.1842+71C>A
NM_133259.3:c.1842+71C>A NP_573566.2:n.1842+71C>A
XM_006711915.2:c.1764+71C>A XP_006711978.1:n.1764+71C>A
XM_006711916.2:c.1842+71C>A XP_006711979.1:n.1842+71C>A
XM_011532473.1:c.1842+71C>A XP_011530775.1:n.1842+71C>A
XM_011532474.1:c.1842+71C>A XP_011530776.1:n.1842+71C>A
XM_006711916.3:c.1842+71C>A XP_006711979.1:n.1842+71C>A
XM_017003117.1:c.1764+71C>A XP_016858606.1:n.1764+71C>A
XR_002958896.1:n.1884+71C>A
NM_133259.4:c.1842+71C>A MANE Select NP_573566.2:n.1842+71C>A