Canonical Allele Identifier: CA1029995811
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v3: 2-43887176-C-A
gnomAD v4: 2-43887176-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887176C>A , CM000664.2:g.43887176C>A GRCh38
NC_000002.11:g.44114315C>A , CM000664.1:g.44114315C>A GRCh37
NC_000002.10:g.43967819C>A NCBI36
NG_008247.1:g.113830G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2376G>T
ENST00000684454.1:n.9473G>T
ENST00000260665.12:c.*1424G>T MANE Select ENSP00000260665.7:n.*1424G>T
ENST00000260665.11:c.*1424G>T ENSP00000260665.7:n.*1424G>T
NM_133259.3:c.*1424G>T NP_573566.2:n.*1424G>T
XR_002958896.1:n.5791G>T
NM_133259.4:c.*1424G>T MANE Select NP_573566.2:n.*1424G>T
Search 100 bp 5'
Search 100 bp 3'