Canonical Allele Identifier: CA2658841522
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43886906-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886906T>C , CM000664.2:g.43886906T>C GRCh38
NC_000002.11:g.44114045T>C , CM000664.1:g.44114045T>C GRCh37
NC_000002.10:g.43967549T>C NCBI36
NG_008247.1:g.114100A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2646A>G
ENST00000684454.1:n.9743A>G
ENST00000260665.12:c.*1694A>G MANE Select ENSP00000260665.7:n.*1694A>G
ENST00000260665.11:c.*1694A>G ENSP00000260665.7:n.*1694A>G
NM_133259.3:c.*1694A>G NP_573566.2:n.*1694A>G
XR_002958896.1:n.6061A>G
NM_133259.4:c.*1694A>G MANE Select NP_573566.2:n.*1694A>G