Canonical Allele Identifier: CA346672734
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43943769A>T , CM000664.2:g.43943769A>T GRCh38
NC_000002.11:g.44170908A>T , CM000664.1:g.44170908A>T GRCh37
NC_000002.10:g.44024412A>T NCBI36
NG_008247.1:g.57237T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000409659.6:c.2422T>A ENSP00000386562.2:p.Leu808Met
ENST00000447246.2:c.2422T>A ENSP00000403637.2:p.Leu808Met
ENST00000681961.1:n.2442T>A
ENST00000682104.1:c.2296T>A ENSP00000507716.1:p.Leu766Met
ENST00000682303.1:c.*2208T>A ENSP00000508325.1:n.*2208T>A
ENST00000682308.1:c.2422T>A ENSP00000507056.1:p.Leu808Met
ENST00000682480.1:c.2422T>A ENSP00000508344.1:p.Leu808Met
ENST00000682546.1:c.2419T>A ENSP00000508188.1:p.Leu807Met
ENST00000682585.1:c.2422T>A ENSP00000506885.1:p.Leu808Met
ENST00000682595.1:n.3004T>A
ENST00000682607.1:c.840T>A
ENST00000682779.1:c.2413T>A ENSP00000507947.1:p.Leu805Met
ENST00000682845.1:n.1524T>A
ENST00000682885.1:c.2377T>A ENSP00000508036.1:p.Leu793Met
ENST00000682933.1:n.2496T>A
ENST00000683072.1:n.3004T>A
ENST00000683125.1:c.2422T>A ENSP00000507939.1:p.Leu808Met
ENST00000683213.1:c.2425T>A ENSP00000507751.1:p.Leu809Met
ENST00000683220.1:c.2452T>A ENSP00000507151.1:p.Leu818Met
ENST00000683329.1:n.3225T>A
ENST00000683346.1:c.*2297T>A ENSP00000507458.1:n.*2297T>A
ENST00000683459.1:n.3009T>A
ENST00000683590.1:c.2422T>A ENSP00000506820.1:p.Leu808Met
ENST00000683623.1:c.2329T>A ENSP00000507702.1:p.Leu777Met
ENST00000683645.1:n.2973T>A
ENST00000683694.1:n.1173T>A
ENST00000683796.1:c.*2294T>A ENSP00000508221.1:n.*2294T>A
ENST00000683802.1:n.5347T>A
ENST00000683833.1:c.2413T>A ENSP00000506852.1:p.Leu805Met
ENST00000683989.1:c.2422T>A ENSP00000507510.1:p.Leu808Met
ENST00000683994.1:c.2422T>A ENSP00000507181.1:p.Leu808Met
ENST00000684290.1:c.*116T>A ENSP00000507243.1:n.*116T>A
ENST00000684306.1:c.*2335T>A ENSP00000508384.1:n.*2335T>A
ENST00000684341.1:n.2442T>A
ENST00000684383.1:c.*2060T>A ENSP00000506863.1:n.*2060T>A
ENST00000684397.1:c.126T>A
ENST00000684619.1:c.*2294T>A ENSP00000508088.1:n.*2294T>A
ENST00000684743.1:n.3453T>A
ENST00000260665.12:c.2422T>A MANE Select ENSP00000260665.7:p.Leu808Met
ENST00000260665.11:c.2422T>A ENSP00000260665.7:p.Leu808Met
NM_133259.3:c.2422T>A NP_573566.2:p.Leu808Met
XM_006711915.2:c.2344T>A XP_006711978.1:p.Leu782Met
XM_006711916.2:c.2422T>A XP_006711979.1:p.Leu808Met
XM_011532473.1:c.2422T>A XP_011530775.1:p.Leu808Met
XM_011532474.1:c.2422T>A XP_011530776.1:p.Leu808Met
XM_006711916.3:c.2422T>A XP_006711979.1:p.Leu808Met
XM_017003117.1:c.2344T>A XP_016858606.1:p.Leu782Met
XR_002958896.1:n.2464T>A
NM_133259.4:c.2422T>A MANE Select NP_573566.2:p.Leu808Met