Canonical Allele Identifier: CA2658837686
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43934103-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43934103G>C , CM000664.2:g.43934103G>C GRCh38
NC_000002.11:g.44161242G>C , CM000664.1:g.44161242G>C GRCh37
NC_000002.10:g.44014746G>C NCBI36
NG_008247.1:g.66903C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000681961.1:n.2756+87C>G
ENST00000682303.1:c.*2522+87C>G ENSP00000508325.1:n.*2522+87C>G
ENST00000682308.1:c.2736+87C>G ENSP00000507056.1:n.2736+87C>G
ENST00000682480.1:c.2736+87C>G ENSP00000508344.1:n.2736+87C>G
ENST00000682546.1:c.2733+87C>G ENSP00000508188.1:n.2733+87C>G
ENST00000682585.1:c.2736+87C>G ENSP00000506885.1:n.2736+87C>G
ENST00000682595.1:n.3320+85C>G
ENST00000682607.1:c.1154+87C>G
ENST00000682779.1:c.2727+87C>G ENSP00000507947.1:n.2727+87C>G
ENST00000682845.1:n.1838+87C>G
ENST00000682885.1:c.2691+87C>G ENSP00000508036.1:n.2691+87C>G
ENST00000682933.1:n.2810+87C>G
ENST00000683072.1:n.3320+85C>G
ENST00000683125.1:c.2736+87C>G ENSP00000507939.1:n.2736+87C>G
ENST00000683213.1:c.2739+87C>G ENSP00000507751.1:n.2739+87C>G
ENST00000683220.1:c.2766+87C>G ENSP00000507151.1:n.2766+87C>G
ENST00000683329.1:n.3539+87C>G
ENST00000683346.1:c.*2611+87C>G ENSP00000507458.1:n.*2611+87C>G
ENST00000683459.1:n.3323+87C>G
ENST00000683590.1:c.2736+87C>G ENSP00000506820.1:n.2736+87C>G
ENST00000683623.1:c.2643+87C>G ENSP00000507702.1:n.2643+87C>G
ENST00000683645.1:n.3287+87C>G
ENST00000683694.1:n.1487+87C>G
ENST00000683796.1:c.*2608+87C>G ENSP00000508221.1:n.*2608+87C>G
ENST00000683802.1:n.5661+87C>G
ENST00000683833.1:c.2727+87C>G ENSP00000506852.1:n.2727+87C>G
ENST00000683989.1:c.*81C>G ENSP00000507510.1:n.*81C>G
ENST00000683994.1:c.2736+87C>G ENSP00000507181.1:n.2736+87C>G
ENST00000684290.1:c.*432+85C>G ENSP00000507243.1:n.*432+85C>G
ENST00000684306.1:c.*2649+87C>G ENSP00000508384.1:n.*2649+87C>G
ENST00000684341.1:n.2756+87C>G
ENST00000684383.1:c.*2374+87C>G ENSP00000506863.1:n.*2374+87C>G
ENST00000684397.1:c.333+651C>G
ENST00000684619.1:c.*2608+87C>G ENSP00000508088.1:n.*2608+87C>G
ENST00000684743.1:n.3767+87C>G
ENST00000260665.12:c.2736+87C>G MANE Select ENSP00000260665.7:n.2736+87C>G
ENST00000260665.11:c.2736+87C>G ENSP00000260665.7:n.2736+87C>G
NM_133259.3:c.2736+87C>G NP_573566.2:n.2736+87C>G
XM_006711915.2:c.2658+87C>G XP_006711978.1:n.2658+87C>G
XM_006711916.2:c.2736+87C>G XP_006711979.1:n.2736+87C>G
XM_011532473.1:c.2736+87C>G XP_011530775.1:n.2736+87C>G
XM_011532474.1:c.2736+87C>G XP_011530776.1:n.2736+87C>G
XM_006711916.3:c.2736+87C>G XP_006711979.1:n.2736+87C>G
XM_017003117.1:c.2658+87C>G XP_016858606.1:n.2658+87C>G
XR_002958896.1:n.2778+87C>G
NM_133259.4:c.2736+87C>G MANE Select NP_573566.2:n.2736+87C>G