Canonical Allele Identifier: CA346672467
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43943691C>A , CM000664.2:g.43943691C>A GRCh38
NC_000002.11:g.44170830C>A , CM000664.1:g.44170830C>A GRCh37
NC_000002.10:g.44024334C>A NCBI36
NG_008247.1:g.57315G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409659.6:c.2500G>T ENSP00000386562.2:p.Glu834Ter
ENST00000447246.2:c.2500G>T ENSP00000403637.2:p.Glu834Ter
ENST00000681961.1:n.2520G>T
ENST00000682104.1:c.2374G>T ENSP00000507716.1:p.Glu792Ter
ENST00000682303.1:c.*2286G>T ENSP00000508325.1:n.*2286G>T
ENST00000682308.1:c.2500G>T ENSP00000507056.1:p.Glu834Ter
ENST00000682480.1:c.2500G>T ENSP00000508344.1:p.Glu834Ter
ENST00000682546.1:c.2497G>T ENSP00000508188.1:p.Glu833Ter
ENST00000682585.1:c.2500G>T ENSP00000506885.1:p.Glu834Ter
ENST00000682595.1:n.3082G>T
ENST00000682607.1:c.918G>T
ENST00000682779.1:c.2491G>T ENSP00000507947.1:p.Glu831Ter
ENST00000682845.1:n.1602G>T
ENST00000682885.1:c.2455G>T ENSP00000508036.1:p.Glu819Ter
ENST00000682933.1:n.2574G>T
ENST00000683072.1:n.3082G>T
ENST00000683125.1:c.2500G>T ENSP00000507939.1:p.Glu834Ter
ENST00000683213.1:c.2503G>T ENSP00000507751.1:p.Glu835Ter
ENST00000683220.1:c.2530G>T ENSP00000507151.1:p.Glu844Ter
ENST00000683329.1:n.3303G>T
ENST00000683346.1:c.*2375G>T ENSP00000507458.1:n.*2375G>T
ENST00000683459.1:n.3087G>T
ENST00000683590.1:c.2500G>T ENSP00000506820.1:p.Glu834Ter
ENST00000683623.1:c.2407G>T ENSP00000507702.1:p.Glu803Ter
ENST00000683645.1:n.3051G>T
ENST00000683694.1:n.1251G>T
ENST00000683796.1:c.*2372G>T ENSP00000508221.1:n.*2372G>T
ENST00000683802.1:n.5425G>T
ENST00000683833.1:c.2491G>T ENSP00000506852.1:p.Glu831Ter
ENST00000683989.1:c.2500G>T ENSP00000507510.1:p.Glu834Ter
ENST00000683994.1:c.2500G>T ENSP00000507181.1:p.Glu834Ter
ENST00000684290.1:c.*194G>T ENSP00000507243.1:n.*194G>T
ENST00000684306.1:c.*2413G>T ENSP00000508384.1:n.*2413G>T
ENST00000684341.1:n.2520G>T
ENST00000684383.1:c.*2138G>T ENSP00000506863.1:n.*2138G>T
ENST00000684397.1:c.204G>T
ENST00000684619.1:c.*2372G>T ENSP00000508088.1:n.*2372G>T
ENST00000684743.1:n.3531G>T
ENST00000260665.12:c.2500G>T MANE Select ENSP00000260665.7:p.Glu834Ter
ENST00000260665.11:c.2500G>T ENSP00000260665.7:p.Glu834Ter
NM_133259.3:c.2500G>T NP_573566.2:p.Glu834Ter
XM_006711915.2:c.2422G>T XP_006711978.1:p.Glu808Ter
XM_006711916.2:c.2500G>T XP_006711979.1:p.Glu834Ter
XM_011532473.1:c.2500G>T XP_011530775.1:p.Glu834Ter
XM_011532474.1:c.2500G>T XP_011530776.1:p.Glu834Ter
XM_006711916.3:c.2500G>T XP_006711979.1:p.Glu834Ter
XM_017003117.1:c.2422G>T XP_016858606.1:p.Glu808Ter
XR_002958896.1:n.2542G>T
NM_133259.4:c.2500G>T MANE Select NP_573566.2:p.Glu834Ter