Canonical Allele Identifier: CA10613408
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 336127
ClinVar RCV Id: RCV000263384
dbSNP Id: rs76970610
gnomAD v2: 2-44114404-A-G
gnomAD v3: 2-43887265-A-G
gnomAD v4: 2-43887265-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887265A>G , CM000664.2:g.43887265A>G GRCh38
NC_000002.11:g.44114404A>G , CM000664.1:g.44114404A>G GRCh37
NC_000002.10:g.43967908A>G NCBI36
NG_008247.1:g.113741T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682612.1:c.2287T>C
ENST00000684454.1:n.9384T>C
ENST00000260665.12:c.*1335T>C MANE Select ENSP00000260665.7:n.*1335T>C
ENST00000260665.11:c.*1335T>C ENSP00000260665.7:n.*1335T>C
NM_133259.3:c.*1335T>C NP_573566.2:n.*1335T>C
XR_002958896.1:n.5702T>C
NM_133259.4:c.*1335T>C MANE Select NP_573566.2:n.*1335T>C