Canonical Allele Identifier: CA2658841623
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43886938-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886938C>T , CM000664.2:g.43886938C>T GRCh38
NC_000002.11:g.44114077C>T , CM000664.1:g.44114077C>T GRCh37
NC_000002.10:g.43967581C>T NCBI36
NG_008247.1:g.114068G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2614G>A
ENST00000684454.1:n.9711G>A
ENST00000260665.12:c.*1662G>A MANE Select ENSP00000260665.7:n.*1662G>A
ENST00000260665.11:c.*1662G>A ENSP00000260665.7:n.*1662G>A
NM_133259.3:c.*1662G>A NP_573566.2:n.*1662G>A
XR_002958896.1:n.6029G>A
NM_133259.4:c.*1662G>A MANE Select NP_573566.2:n.*1662G>A