Canonical Allele Identifier: CA346673052
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43943820G>T , CM000664.2:g.43943820G>T GRCh38
NC_000002.11:g.44170959G>T , CM000664.1:g.44170959G>T GRCh37
NC_000002.10:g.44024463G>T NCBI36
NG_008247.1:g.57186C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.2371C>A ENSP00000386562.2:p.His791Asn
ENST00000447246.2:c.2371C>A ENSP00000403637.2:p.His791Asn
ENST00000681961.1:n.2391C>A
ENST00000682104.1:c.2245C>A ENSP00000507716.1:p.His749Asn
ENST00000682303.1:c.*2157C>A ENSP00000508325.1:n.*2157C>A
ENST00000682308.1:c.2371C>A ENSP00000507056.1:p.His791Asn
ENST00000682480.1:c.2371C>A ENSP00000508344.1:p.His791Asn
ENST00000682546.1:c.2368C>A ENSP00000508188.1:p.His790Asn
ENST00000682585.1:c.2371C>A ENSP00000506885.1:p.His791Asn
ENST00000682595.1:n.2953C>A
ENST00000682607.1:c.789C>A
ENST00000682779.1:c.2362C>A ENSP00000507947.1:p.His788Asn
ENST00000682845.1:n.1473C>A
ENST00000682885.1:c.2326C>A ENSP00000508036.1:p.His776Asn
ENST00000682933.1:n.2445C>A
ENST00000683072.1:n.2953C>A
ENST00000683125.1:c.2371C>A ENSP00000507939.1:p.His791Asn
ENST00000683213.1:c.2374C>A ENSP00000507751.1:p.His792Asn
ENST00000683220.1:c.2401C>A ENSP00000507151.1:p.His801Asn
ENST00000683329.1:n.3174C>A
ENST00000683346.1:c.*2246C>A ENSP00000507458.1:n.*2246C>A
ENST00000683459.1:n.2958C>A
ENST00000683590.1:c.2371C>A ENSP00000506820.1:p.His791Asn
ENST00000683623.1:c.2297-19C>A ENSP00000507702.1:n.2297-19C>A
ENST00000683645.1:n.2922C>A
ENST00000683694.1:n.1122C>A
ENST00000683796.1:c.*2243C>A ENSP00000508221.1:n.*2243C>A
ENST00000683802.1:n.5296C>A
ENST00000683833.1:c.2362C>A ENSP00000506852.1:p.His788Asn
ENST00000683989.1:c.2371C>A ENSP00000507510.1:p.His791Asn
ENST00000683994.1:c.2371C>A ENSP00000507181.1:p.His791Asn
ENST00000684290.1:c.*65C>A ENSP00000507243.1:n.*65C>A
ENST00000684306.1:c.*2284C>A ENSP00000508384.1:n.*2284C>A
ENST00000684341.1:n.2391C>A
ENST00000684383.1:c.*2009C>A ENSP00000506863.1:n.*2009C>A
ENST00000684397.1:c.75C>A
ENST00000684619.1:c.*2243C>A ENSP00000508088.1:n.*2243C>A
ENST00000684743.1:n.3402C>A
ENST00000260665.12:c.2371C>A MANE Select ENSP00000260665.7:p.His791Asn
ENST00000260665.11:c.2371C>A ENSP00000260665.7:p.His791Asn
NM_133259.3:c.2371C>A NP_573566.2:p.His791Asn
XM_006711915.2:c.2293C>A XP_006711978.1:p.His765Asn
XM_006711916.2:c.2371C>A XP_006711979.1:p.His791Asn
XM_011532473.1:c.2371C>A XP_011530775.1:p.His791Asn
XM_011532474.1:c.2371C>A XP_011530776.1:p.His791Asn
XM_006711916.3:c.2371C>A XP_006711979.1:p.His791Asn
XM_017003117.1:c.2293C>A XP_016858606.1:p.His765Asn
XR_002958896.1:n.2413C>A
NM_133259.4:c.2371C>A MANE Select NP_573566.2:p.His791Asn