Canonical Allele Identifier: CA346673509
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43943894T>A , CM000664.2:g.43943894T>A GRCh38
NC_000002.11:g.44171033T>A , CM000664.1:g.44171033T>A GRCh37
NC_000002.10:g.44024537T>A NCBI36
NG_008247.1:g.57112A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.2297A>T ENSP00000386562.2:p.Asp766Val
ENST00000447246.2:c.2297A>T ENSP00000403637.2:p.Asp766Val
ENST00000681961.1:n.2317A>T
ENST00000682104.1:c.2171A>T ENSP00000507716.1:p.Asp724Val
ENST00000682303.1:c.*2083A>T ENSP00000508325.1:n.*2083A>T
ENST00000682308.1:c.2297A>T ENSP00000507056.1:p.Asp766Val
ENST00000682480.1:c.2297A>T ENSP00000508344.1:p.Asp766Val
ENST00000682546.1:c.2294A>T ENSP00000508188.1:p.Asp765Val
ENST00000682585.1:c.2297A>T ENSP00000506885.1:p.Asp766Val
ENST00000682595.1:n.2879A>T
ENST00000682607.1:c.715A>T
ENST00000682779.1:c.2288A>T ENSP00000507947.1:p.Asp763Val
ENST00000682845.1:n.1399A>T
ENST00000682885.1:c.2252A>T ENSP00000508036.1:p.Asp751Val
ENST00000682933.1:n.2371A>T
ENST00000683072.1:n.2879A>T
ENST00000683125.1:c.2297A>T ENSP00000507939.1:p.Asp766Val
ENST00000683213.1:c.2300A>T ENSP00000507751.1:p.Asp767Val
ENST00000683220.1:c.2327A>T ENSP00000507151.1:p.Asp776Val
ENST00000683329.1:n.3100A>T
ENST00000683346.1:c.*2172A>T ENSP00000507458.1:n.*2172A>T
ENST00000683459.1:n.2884A>T
ENST00000683590.1:c.2297A>T ENSP00000506820.1:p.Asp766Val
ENST00000683623.1:c.2297-93A>T ENSP00000507702.1:n.2297-93A>T
ENST00000683645.1:n.2848A>T
ENST00000683694.1:n.1048A>T
ENST00000683796.1:c.*2169A>T ENSP00000508221.1:n.*2169A>T
ENST00000683802.1:n.5222A>T
ENST00000683833.1:c.2288A>T ENSP00000506852.1:p.Asp763Val
ENST00000683989.1:c.2297A>T ENSP00000507510.1:p.Asp766Val
ENST00000683994.1:c.2297A>T ENSP00000507181.1:p.Asp766Val
ENST00000684290.1:c.2211A>T ENSP00000507243.1:p.Leu737Phe
ENST00000684306.1:c.*2210A>T ENSP00000508384.1:n.*2210A>T
ENST00000684341.1:n.2317A>T
ENST00000684383.1:c.*1935A>T ENSP00000506863.1:n.*1935A>T
ENST00000684397.1:c.1A>T
ENST00000684619.1:c.*2169A>T ENSP00000508088.1:n.*2169A>T
ENST00000684743.1:n.3328A>T
ENST00000260665.12:c.2297A>T MANE Select ENSP00000260665.7:p.Asp766Val
ENST00000260665.11:c.2297A>T ENSP00000260665.7:p.Asp766Val
NM_133259.3:c.2297A>T NP_573566.2:p.Asp766Val
XM_006711915.2:c.2219A>T XP_006711978.1:p.Asp740Val
XM_006711916.2:c.2297A>T XP_006711979.1:p.Asp766Val
XM_011532473.1:c.2297A>T XP_011530775.1:p.Asp766Val
XM_011532474.1:c.2297A>T XP_011530776.1:p.Asp766Val
XM_006711916.3:c.2297A>T XP_006711979.1:p.Asp766Val
XM_017003117.1:c.2219A>T XP_016858606.1:p.Asp740Val
XR_002958896.1:n.2339A>T
NM_133259.4:c.2297A>T MANE Select NP_573566.2:p.Asp766Val