Canonical Allele Identifier: CA1029995750
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v3: 2-43887167-T-G
gnomAD v4: 2-43887167-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887167T>G , CM000664.2:g.43887167T>G GRCh38
NC_000002.11:g.44114306T>G , CM000664.1:g.44114306T>G GRCh37
NC_000002.10:g.43967810T>G NCBI36
NG_008247.1:g.113839A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682612.1:c.2385A>C
ENST00000684454.1:n.9482A>C
ENST00000260665.12:c.*1433A>C MANE Select ENSP00000260665.7:n.*1433A>C
ENST00000260665.11:c.*1433A>C ENSP00000260665.7:n.*1433A>C
NM_133259.3:c.*1433A>C NP_573566.2:n.*1433A>C
XR_002958896.1:n.5800A>C
NM_133259.4:c.*1433A>C MANE Select NP_573566.2:n.*1433A>C
Search 100 bp 5'
Search 100 bp 3'