Canonical Allele Identifier: CA2658837092
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43918242-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918242C>T , CM000664.2:g.43918242C>T GRCh38
NC_000002.11:g.44145381C>T , CM000664.1:g.44145381C>T GRCh37
NC_000002.10:g.43998885C>T NCBI36
NG_008247.1:g.82764G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000681993.1:n.591+14G>A
ENST00000682295.1:c.303+14G>A ENSP00000507499.1:n.303+14G>A
ENST00000682303.1:c.*2825+14G>A ENSP00000508325.1:n.*2825+14G>A
ENST00000682308.1:c.3039+14G>A ENSP00000507056.1:n.3039+14G>A
ENST00000682480.1:c.3039+14G>A ENSP00000508344.1:n.3039+14G>A
ENST00000682546.1:c.3036+14G>A ENSP00000508188.1:n.3036+14G>A
ENST00000682585.1:c.3039+14G>A ENSP00000506885.1:n.3039+14G>A
ENST00000682595.1:n.3623+14G>A
ENST00000682607.1:c.1457+14G>A
ENST00000682779.1:c.3030+14G>A ENSP00000507947.1:n.3030+14G>A
ENST00000682845.1:n.2141+14G>A
ENST00000682885.1:c.2994+14G>A ENSP00000508036.1:n.2994+14G>A
ENST00000682933.1:n.3113+14G>A
ENST00000683072.1:n.3623+14G>A
ENST00000683080.1:n.658+14G>A
ENST00000683125.1:c.3147+14G>A ENSP00000507939.1:n.3147+14G>A
ENST00000683213.1:c.3042+14G>A ENSP00000507751.1:n.3042+14G>A
ENST00000683220.1:c.3069+14G>A ENSP00000507151.1:n.3069+14G>A
ENST00000683329.1:n.3842+14G>A
ENST00000683346.1:c.*2914+14G>A ENSP00000507458.1:n.*2914+14G>A
ENST00000683409.1:n.1646+14G>A
ENST00000683459.1:n.3626+14G>A
ENST00000683590.1:c.2897-5684G>A ENSP00000506820.1:n.2897-5684G>A
ENST00000683623.1:c.2946+14G>A ENSP00000507702.1:n.2946+14G>A
ENST00000683645.1:n.3590+14G>A
ENST00000683796.1:c.*2911+14G>A ENSP00000508221.1:n.*2911+14G>A
ENST00000683802.1:n.5964+14G>A
ENST00000683833.1:c.3030+14G>A ENSP00000506852.1:n.3030+14G>A
ENST00000683994.1:c.3039+14G>A ENSP00000507181.1:n.3039+14G>A
ENST00000684290.1:c.*575+14G>A ENSP00000507243.1:n.*575+14G>A
ENST00000684306.1:c.*2952+14G>A ENSP00000508384.1:n.*2952+14G>A
ENST00000684341.1:n.3059+14G>A
ENST00000684383.1:c.*2677+14G>A ENSP00000506863.1:n.*2677+14G>A
ENST00000684619.1:c.*2911+14G>A ENSP00000508088.1:n.*2911+14G>A
ENST00000684705.1:n.160+14G>A
ENST00000684743.1:n.4070+14G>A
ENST00000260665.12:c.3039+14G>A MANE Select ENSP00000260665.7:n.3039+14G>A
ENST00000260665.11:c.3039+14G>A ENSP00000260665.7:n.3039+14G>A
NM_133259.3:c.3039+14G>A NP_573566.2:n.3039+14G>A
XM_006711915.2:c.2961+14G>A XP_006711978.1:n.2961+14G>A
XM_006711916.2:c.3039+14G>A XP_006711979.1:n.3039+14G>A
XM_011532473.1:c.3039+14G>A XP_011530775.1:n.3039+14G>A
XM_011532474.1:c.3039+14G>A XP_011530776.1:n.3039+14G>A
XM_006711916.3:c.3039+14G>A XP_006711979.1:n.3039+14G>A
XM_017003117.1:c.2961+14G>A XP_016858606.1:n.2961+14G>A
XR_002958896.1:n.3081+14G>A
NM_133259.4:c.3039+14G>A MANE Select NP_573566.2:n.3039+14G>A