Canonical Allele Identifier: CA346668211
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43918099-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918099G>T , CM000664.2:g.43918099G>T GRCh38
NC_000002.11:g.44145238G>T , CM000664.1:g.44145238G>T GRCh37
NC_000002.10:g.43998742G>T NCBI36
NG_008247.1:g.82907C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.626C>A
ENST00000682295.1:c.303+157C>A ENSP00000507499.1:n.303+157C>A
ENST00000682303.1:c.*2860C>A ENSP00000508325.1:n.*2860C>A
ENST00000682308.1:c.3074C>A ENSP00000507056.1:p.Ser1025Tyr
ENST00000682480.1:c.3092C>A ENSP00000508344.1:p.Ser1031Tyr
ENST00000682546.1:c.3071C>A ENSP00000508188.1:p.Ser1024Tyr
ENST00000682585.1:c.3074C>A ENSP00000506885.1:p.Ser1025Tyr
ENST00000682595.1:n.3658C>A
ENST00000682607.1:c.1492C>A
ENST00000682779.1:c.3065C>A ENSP00000507947.1:p.Ser1022Tyr
ENST00000682845.1:n.2176C>A
ENST00000682885.1:c.3029C>A ENSP00000508036.1:p.Ser1010Tyr
ENST00000682933.1:n.3148C>A
ENST00000683072.1:n.3658C>A
ENST00000683080.1:n.693C>A
ENST00000683125.1:c.3182C>A ENSP00000507939.1:p.Ser1061Tyr
ENST00000683213.1:c.3077C>A ENSP00000507751.1:p.Ser1026Tyr
ENST00000683220.1:c.3104C>A ENSP00000507151.1:p.Ser1035Tyr
ENST00000683329.1:n.3877C>A
ENST00000683346.1:c.*2949C>A ENSP00000507458.1:n.*2949C>A
ENST00000683409.1:n.1681C>A
ENST00000683459.1:n.3661C>A
ENST00000683590.1:c.2897-5541C>A ENSP00000506820.1:n.2897-5541C>A
ENST00000683623.1:c.2981C>A ENSP00000507702.1:p.Ser994Tyr
ENST00000683645.1:n.3625C>A
ENST00000683796.1:c.*2946C>A ENSP00000508221.1:n.*2946C>A
ENST00000683802.1:n.5999C>A
ENST00000683833.1:c.3065C>A ENSP00000506852.1:p.Ser1022Tyr
ENST00000683994.1:c.3074C>A ENSP00000507181.1:p.Ser1025Tyr
ENST00000684290.1:c.*610C>A ENSP00000507243.1:n.*610C>A
ENST00000684306.1:c.*2987C>A ENSP00000508384.1:n.*2987C>A
ENST00000684341.1:n.3094C>A
ENST00000684383.1:c.*2712C>A ENSP00000506863.1:n.*2712C>A
ENST00000684619.1:c.*2946C>A ENSP00000508088.1:n.*2946C>A
ENST00000684705.1:n.195C>A
ENST00000684743.1:n.4105C>A
ENST00000260665.12:c.3074C>A MANE Select ENSP00000260665.7:p.Ser1025Tyr
ENST00000260665.11:c.3074C>A ENSP00000260665.7:p.Ser1025Tyr
NM_133259.3:c.3074C>A NP_573566.2:p.Ser1025Tyr
XM_006711915.2:c.2996C>A XP_006711978.1:p.Ser999Tyr
XM_006711916.2:c.3074C>A XP_006711979.1:p.Ser1025Tyr
XM_011532473.1:c.3074C>A XP_011530775.1:p.Ser1025Tyr
XM_011532474.1:c.3074C>A XP_011530776.1:p.Ser1025Tyr
XM_006711916.3:c.3074C>A XP_006711979.1:p.Ser1025Tyr
XM_017003117.1:c.2996C>A XP_016858606.1:p.Ser999Tyr
XR_002958896.1:n.3116C>A
NM_133259.4:c.3074C>A MANE Select NP_573566.2:p.Ser1025Tyr