Canonical Allele Identifier: CA346668141
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918084G>T , CM000664.2:g.43918084G>T GRCh38
NC_000002.11:g.44145223G>T , CM000664.1:g.44145223G>T GRCh37
NC_000002.10:g.43998727G>T NCBI36
NG_008247.1:g.82922C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.641C>A
ENST00000682295.1:c.303+172C>A ENSP00000507499.1:n.303+172C>A
ENST00000682303.1:c.*2875C>A ENSP00000508325.1:n.*2875C>A
ENST00000682308.1:c.3089C>A ENSP00000507056.1:p.Thr1030Asn
ENST00000682480.1:c.3107C>A ENSP00000508344.1:p.Thr1036Asn
ENST00000682546.1:c.3086C>A ENSP00000508188.1:p.Thr1029Asn
ENST00000682585.1:c.3089C>A ENSP00000506885.1:p.Thr1030Asn
ENST00000682595.1:n.3673C>A
ENST00000682607.1:c.1507C>A
ENST00000682779.1:c.3080C>A ENSP00000507947.1:p.Thr1027Asn
ENST00000682845.1:n.2191C>A
ENST00000682885.1:c.3044C>A ENSP00000508036.1:p.Thr1015Asn
ENST00000682933.1:n.3163C>A
ENST00000683072.1:n.3673C>A
ENST00000683080.1:n.708C>A
ENST00000683125.1:c.3197C>A ENSP00000507939.1:p.Thr1066Asn
ENST00000683213.1:c.3092C>A ENSP00000507751.1:p.Thr1031Asn
ENST00000683220.1:c.3119C>A ENSP00000507151.1:p.Thr1040Asn
ENST00000683329.1:n.3892C>A
ENST00000683346.1:c.*2964C>A ENSP00000507458.1:n.*2964C>A
ENST00000683409.1:n.1696C>A
ENST00000683459.1:n.3676C>A
ENST00000683590.1:c.2897-5526C>A ENSP00000506820.1:n.2897-5526C>A
ENST00000683623.1:c.2996C>A ENSP00000507702.1:p.Thr999Asn
ENST00000683645.1:n.3640C>A
ENST00000683796.1:c.*2961C>A ENSP00000508221.1:n.*2961C>A
ENST00000683802.1:n.6014C>A
ENST00000683833.1:c.3080C>A ENSP00000506852.1:p.Thr1027Asn
ENST00000683994.1:c.3089C>A ENSP00000507181.1:p.Thr1030Asn
ENST00000684290.1:c.*625C>A ENSP00000507243.1:n.*625C>A
ENST00000684306.1:c.*3002C>A ENSP00000508384.1:n.*3002C>A
ENST00000684341.1:n.3109C>A
ENST00000684383.1:c.*2727C>A ENSP00000506863.1:n.*2727C>A
ENST00000684619.1:c.*2961C>A ENSP00000508088.1:n.*2961C>A
ENST00000684705.1:n.210C>A
ENST00000684743.1:n.4120C>A
ENST00000260665.12:c.3089C>A MANE Select ENSP00000260665.7:p.Thr1030Asn
ENST00000260665.11:c.3089C>A ENSP00000260665.7:p.Thr1030Asn
NM_133259.3:c.3089C>A NP_573566.2:p.Thr1030Asn
XM_006711915.2:c.3011C>A XP_006711978.1:p.Thr1004Asn
XM_006711916.2:c.3089C>A XP_006711979.1:p.Thr1030Asn
XM_011532473.1:c.3089C>A XP_011530775.1:p.Thr1030Asn
XM_011532474.1:c.3089C>A XP_011530776.1:p.Thr1030Asn
XM_006711916.3:c.3089C>A XP_006711979.1:p.Thr1030Asn
XM_017003117.1:c.3011C>A XP_016858606.1:p.Thr1004Asn
XR_002958896.1:n.3131C>A
NM_133259.4:c.3089C>A MANE Select NP_573566.2:p.Thr1030Asn