Canonical Allele Identifier: CA2658841651
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43886948-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886948G>T , CM000664.2:g.43886948G>T GRCh38
NC_000002.11:g.44114087G>T , CM000664.1:g.44114087G>T GRCh37
NC_000002.10:g.43967591G>T NCBI36
NG_008247.1:g.114058C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2604C>A
ENST00000684454.1:n.9701C>A
ENST00000260665.12:c.*1652C>A MANE Select ENSP00000260665.7:n.*1652C>A
ENST00000260665.11:c.*1652C>A ENSP00000260665.7:n.*1652C>A
NM_133259.3:c.*1652C>A NP_573566.2:n.*1652C>A
XR_002958896.1:n.6019C>A
NM_133259.4:c.*1652C>A MANE Select NP_573566.2:n.*1652C>A
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