Canonical Allele Identifier: CA1029994974
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1670293971
gnomAD v3: 2-43887062-C-G
gnomAD v4: 2-43887062-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887062C>G , CM000664.2:g.43887062C>G GRCh38
NC_000002.11:g.44114201C>G , CM000664.1:g.44114201C>G GRCh37
NC_000002.10:g.43967705C>G NCBI36
NG_008247.1:g.113944G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2490G>C
ENST00000684454.1:n.9587G>C
ENST00000260665.12:c.*1538G>C MANE Select ENSP00000260665.7:n.*1538G>C
ENST00000260665.11:c.*1538G>C ENSP00000260665.7:n.*1538G>C
NM_133259.3:c.*1538G>C NP_573566.2:n.*1538G>C
XR_002958896.1:n.5905G>C
NM_133259.4:c.*1538G>C MANE Select NP_573566.2:n.*1538G>C
Search 100 bp 5'
Search 100 bp 3'