Canonical Allele Identifier: CA2749706380
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887163A>C , CM000664.2:g.43887163A>C GRCh38
NC_000002.11:g.44114302A>C , CM000664.1:g.44114302A>C GRCh37
NC_000002.10:g.43967806A>C NCBI36
NG_008247.1:g.113843T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2389T>G
ENST00000684454.1:n.9486T>G
ENST00000260665.12:c.*1437T>G MANE Select ENSP00000260665.7:n.*1437T>G
ENST00000260665.11:c.*1437T>G ENSP00000260665.7:n.*1437T>G
NM_133259.3:c.*1437T>G NP_573566.2:n.*1437T>G
XR_002958896.1:n.5804T>G
NM_133259.4:c.*1437T>G MANE Select NP_573566.2:n.*1437T>G