Canonical Allele Identifier: CA1029994825
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs113545857

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886898T>G , CM000664.2:g.43886898T>G GRCh38
NC_000002.11:g.44114037T>G , CM000664.1:g.44114037T>G GRCh37
NC_000002.10:g.43967541T>G NCBI36
NG_008247.1:g.114108A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2654A>C
ENST00000684454.1:n.9751A>C
ENST00000260665.12:c.*1702A>C MANE Select ENSP00000260665.7:n.*1702A>C
ENST00000260665.11:c.*1702A>C ENSP00000260665.7:n.*1702A>C
NM_133259.3:c.*1702A>C NP_573566.2:n.*1702A>C
XR_002958896.1:n.6069A>C
NM_133259.4:c.*1702A>C MANE Select NP_573566.2:n.*1702A>C