Canonical Allele Identifier: CA1029995681
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs78163628
gnomAD v3: 2-43887165-G-T
gnomAD v4: 2-43887165-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887165G>T , CM000664.2:g.43887165G>T GRCh38
NC_000002.11:g.44114304G>T , CM000664.1:g.44114304G>T GRCh37
NC_000002.10:g.43967808G>T NCBI36
NG_008247.1:g.113841C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682612.1:c.2387C>A
ENST00000684454.1:n.9484C>A
ENST00000260665.12:c.*1435C>A MANE Select ENSP00000260665.7:n.*1435C>A
ENST00000260665.11:c.*1435C>A ENSP00000260665.7:n.*1435C>A
NM_133259.3:c.*1435C>A NP_573566.2:n.*1435C>A
XR_002958896.1:n.5802C>A
NM_133259.4:c.*1435C>A MANE Select NP_573566.2:n.*1435C>A
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