Canonical Allele Identifier: CA2658841445
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43886875-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886875T>C , CM000664.2:g.43886875T>C GRCh38
NC_000002.11:g.44114014T>C , CM000664.1:g.44114014T>C GRCh37
NC_000002.10:g.43967518T>C NCBI36
NG_008247.1:g.114131A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2677A>G
ENST00000684454.1:n.9774A>G
ENST00000260665.12:c.*1725A>G MANE Select ENSP00000260665.7:n.*1725A>G
ENST00000260665.11:c.*1725A>G ENSP00000260665.7:n.*1725A>G
NM_133259.3:c.*1725A>G NP_573566.2:n.*1725A>G
XR_002958896.1:n.6092A>G
NM_133259.4:c.*1725A>G MANE Select NP_573566.2:n.*1725A>G