Canonical Allele Identifier: CA2749706393
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887234A>G , CM000664.2:g.43887234A>G GRCh38
NC_000002.11:g.44114373A>G , CM000664.1:g.44114373A>G GRCh37
NC_000002.10:g.43967877A>G NCBI36
NG_008247.1:g.113772T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2318T>C
ENST00000684454.1:n.9415T>C
ENST00000260665.12:c.*1366T>C MANE Select ENSP00000260665.7:n.*1366T>C
ENST00000260665.11:c.*1366T>C ENSP00000260665.7:n.*1366T>C
NM_133259.3:c.*1366T>C NP_573566.2:n.*1366T>C
XR_002958896.1:n.5733T>C
NM_133259.4:c.*1366T>C MANE Select NP_573566.2:n.*1366T>C