Canonical Allele Identifier: CA346668384
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918257T>A , CM000664.2:g.43918257T>A GRCh38
NC_000002.11:g.44145396T>A , CM000664.1:g.44145396T>A GRCh37
NC_000002.10:g.43998900T>A NCBI36
NG_008247.1:g.82749A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.590A>T
ENST00000682295.1:c.302A>T ENSP00000507499.1:p.Glu101Val
ENST00000682303.1:c.*2824A>T ENSP00000508325.1:n.*2824A>T
ENST00000682308.1:c.3038A>T ENSP00000507056.1:p.Glu1013Val
ENST00000682480.1:c.3038A>T ENSP00000508344.1:p.Glu1013Val
ENST00000682546.1:c.3035A>T ENSP00000508188.1:p.Glu1012Val
ENST00000682585.1:c.3038A>T ENSP00000506885.1:p.Glu1013Val
ENST00000682595.1:n.3622A>T
ENST00000682607.1:c.1456A>T
ENST00000682779.1:c.3029A>T ENSP00000507947.1:p.Glu1010Val
ENST00000682845.1:n.2140A>T
ENST00000682885.1:c.2993A>T ENSP00000508036.1:p.Glu998Val
ENST00000682933.1:n.3112A>T
ENST00000683072.1:n.3622A>T
ENST00000683080.1:n.657A>T
ENST00000683125.1:c.3146A>T ENSP00000507939.1:p.Glu1049Val
ENST00000683213.1:c.3041A>T ENSP00000507751.1:p.Glu1014Val
ENST00000683220.1:c.3068A>T ENSP00000507151.1:p.Glu1023Val
ENST00000683236.1:c.368A>T ENSP00000506891.1:n.368A>T
ENST00000683329.1:n.3841A>T
ENST00000683346.1:c.*2913A>T ENSP00000507458.1:n.*2913A>T
ENST00000683409.1:n.1645A>T
ENST00000683459.1:n.3625A>T
ENST00000683590.1:c.2897-5699A>T ENSP00000506820.1:n.2897-5699A>T
ENST00000683623.1:c.2945A>T ENSP00000507702.1:p.Glu982Val
ENST00000683645.1:n.3589A>T
ENST00000683796.1:c.*2910A>T ENSP00000508221.1:n.*2910A>T
ENST00000683802.1:n.5963A>T
ENST00000683833.1:c.3029A>T ENSP00000506852.1:p.Glu1010Val
ENST00000683994.1:c.3038A>T ENSP00000507181.1:p.Glu1013Val
ENST00000684290.1:c.*574A>T ENSP00000507243.1:n.*574A>T
ENST00000684306.1:c.*2951A>T ENSP00000508384.1:n.*2951A>T
ENST00000684341.1:n.3058A>T
ENST00000684383.1:c.*2676A>T ENSP00000506863.1:n.*2676A>T
ENST00000684619.1:c.*2910A>T ENSP00000508088.1:n.*2910A>T
ENST00000684705.1:n.159A>T
ENST00000684743.1:n.4069A>T
ENST00000260665.12:c.3038A>T MANE Select ENSP00000260665.7:p.Glu1013Val
ENST00000260665.11:c.3038A>T ENSP00000260665.7:p.Glu1013Val
NM_133259.3:c.3038A>T NP_573566.2:p.Glu1013Val
XM_006711915.2:c.2960A>T XP_006711978.1:p.Glu987Val
XM_006711916.2:c.3038A>T XP_006711979.1:p.Glu1013Val
XM_011532473.1:c.3038A>T XP_011530775.1:p.Glu1013Val
XM_011532474.1:c.3038A>T XP_011530776.1:p.Glu1013Val
XM_006711916.3:c.3038A>T XP_006711979.1:p.Glu1013Val
XM_017003117.1:c.2960A>T XP_016858606.1:p.Glu987Val
XR_002958896.1:n.3080A>T
NM_133259.4:c.3038A>T MANE Select NP_573566.2:p.Glu1013Val