Canonical Allele Identifier: CA1029994864

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670291392
• gnomAD v3: 2-43886967-T-C
• gnomAD v4: 2-43886967-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43886967T>C , CM000664.2:g.43886967T>C	GRCh38
NC_000002.11:g.44114106T>C , CM000664.1:g.44114106T>C	GRCh37
NC_000002.10:g.43967610T>C	NCBI36
NG_008247.1:g.114039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682612.1:c.2585A>G
ENST00000684454.1:n.9682A>G
ENST00000260665.12:c.*1633A>G MANE Select	ENSP00000260665.7:n.*1633A>G
ENST00000260665.11:c.*1633A>G	ENSP00000260665.7:n.*1633A>G
NM_133259.3:c.*1633A>G	NP_573566.2:n.*1633A>G
XR_002958896.1:n.6000A>G
NM_133259.4:c.*1633A>G MANE Select	NP_573566.2:n.*1633A>G