Canonical Allele Identifier: CA769090196
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1203927898
gnomAD v3: 2-43887367-T-C
gnomAD v4: 2-43887367-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887367T>C , CM000664.2:g.43887367T>C GRCh38
NC_000002.11:g.44114506T>C , CM000664.1:g.44114506T>C GRCh37
NC_000002.10:g.43968010T>C NCBI36
NG_008247.1:g.113639A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2185A>G
ENST00000684454.1:n.9282A>G
ENST00000260665.12:c.*1233A>G MANE Select ENSP00000260665.7:n.*1233A>G
ENST00000260665.11:c.*1233A>G ENSP00000260665.7:n.*1233A>G
NM_133259.3:c.*1233A>G NP_573566.2:n.*1233A>G
XR_002958896.1:n.5600A>G
NM_133259.4:c.*1233A>G MANE Select NP_573566.2:n.*1233A>G