Canonical Allele Identifier: CA2749706358
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886954A>G , CM000664.2:g.43886954A>G GRCh38
NC_000002.11:g.44114093A>G , CM000664.1:g.44114093A>G GRCh37
NC_000002.10:g.43967597A>G NCBI36
NG_008247.1:g.114052T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2598T>C
ENST00000684454.1:n.9695T>C
ENST00000260665.12:c.*1646T>C MANE Select ENSP00000260665.7:n.*1646T>C
ENST00000260665.11:c.*1646T>C ENSP00000260665.7:n.*1646T>C
NM_133259.3:c.*1646T>C NP_573566.2:n.*1646T>C
XR_002958896.1:n.6013T>C
NM_133259.4:c.*1646T>C MANE Select NP_573566.2:n.*1646T>C