Canonical Allele Identifier: CA2493996827
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1672186472
gnomAD v4: 2-43934130-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43934130T>A , CM000664.2:g.43934130T>A GRCh38
NC_000002.11:g.44161269T>A , CM000664.1:g.44161269T>A GRCh37
NC_000002.10:g.44014773T>A NCBI36
NG_008247.1:g.66876A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000681961.1:n.2756+60A>T
ENST00000682303.1:c.*2522+60A>T ENSP00000508325.1:n.*2522+60A>T
ENST00000682308.1:c.2736+60A>T ENSP00000507056.1:n.2736+60A>T
ENST00000682480.1:c.2736+60A>T ENSP00000508344.1:n.2736+60A>T
ENST00000682546.1:c.2733+60A>T ENSP00000508188.1:n.2733+60A>T
ENST00000682585.1:c.2736+60A>T ENSP00000506885.1:n.2736+60A>T
ENST00000682595.1:n.3320+58A>T
ENST00000682607.1:c.1154+60A>T
ENST00000682779.1:c.2727+60A>T ENSP00000507947.1:n.2727+60A>T
ENST00000682845.1:n.1838+60A>T
ENST00000682885.1:c.2691+60A>T ENSP00000508036.1:n.2691+60A>T
ENST00000682933.1:n.2810+60A>T
ENST00000683072.1:n.3320+58A>T
ENST00000683125.1:c.2736+60A>T ENSP00000507939.1:n.2736+60A>T
ENST00000683213.1:c.2739+60A>T ENSP00000507751.1:n.2739+60A>T
ENST00000683220.1:c.2766+60A>T ENSP00000507151.1:n.2766+60A>T
ENST00000683329.1:n.3539+60A>T
ENST00000683346.1:c.*2611+60A>T ENSP00000507458.1:n.*2611+60A>T
ENST00000683459.1:n.3323+60A>T
ENST00000683590.1:c.2736+60A>T ENSP00000506820.1:n.2736+60A>T
ENST00000683623.1:c.2643+60A>T ENSP00000507702.1:n.2643+60A>T
ENST00000683645.1:n.3287+60A>T
ENST00000683694.1:n.1487+60A>T
ENST00000683796.1:c.*2608+60A>T ENSP00000508221.1:n.*2608+60A>T
ENST00000683802.1:n.5661+60A>T
ENST00000683833.1:c.2727+60A>T ENSP00000506852.1:n.2727+60A>T
ENST00000683989.1:c.*54A>T ENSP00000507510.1:n.*54A>T
ENST00000683994.1:c.2736+60A>T ENSP00000507181.1:n.2736+60A>T
ENST00000684290.1:c.*432+58A>T ENSP00000507243.1:n.*432+58A>T
ENST00000684306.1:c.*2649+60A>T ENSP00000508384.1:n.*2649+60A>T
ENST00000684341.1:n.2756+60A>T
ENST00000684383.1:c.*2374+60A>T ENSP00000506863.1:n.*2374+60A>T
ENST00000684397.1:c.333+624A>T
ENST00000684619.1:c.*2608+60A>T ENSP00000508088.1:n.*2608+60A>T
ENST00000684743.1:n.3767+60A>T
ENST00000260665.12:c.2736+60A>T MANE Select ENSP00000260665.7:n.2736+60A>T
ENST00000260665.11:c.2736+60A>T ENSP00000260665.7:n.2736+60A>T
NM_133259.3:c.2736+60A>T NP_573566.2:n.2736+60A>T
XM_006711915.2:c.2658+60A>T XP_006711978.1:n.2658+60A>T
XM_006711916.2:c.2736+60A>T XP_006711979.1:n.2736+60A>T
XM_011532473.1:c.2736+60A>T XP_011530775.1:n.2736+60A>T
XM_011532474.1:c.2736+60A>T XP_011530776.1:n.2736+60A>T
XM_006711916.3:c.2736+60A>T XP_006711979.1:n.2736+60A>T
XM_017003117.1:c.2658+60A>T XP_016858606.1:n.2658+60A>T
XR_002958896.1:n.2778+60A>T
NM_133259.4:c.2736+60A>T MANE Select NP_573566.2:n.2736+60A>T