Canonical Allele Identifier: CA2749706389

Gene: LRPPRC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43887184T>C , CM000664.2:g.43887184T>C	GRCh38
NC_000002.11:g.44114323T>C , CM000664.1:g.44114323T>C	GRCh37
NC_000002.10:g.43967827T>C	NCBI36
NG_008247.1:g.113822A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682612.1:c.2368A>G
ENST00000684454.1:n.9465A>G
ENST00000260665.12:c.*1416A>G MANE Select	ENSP00000260665.7:n.*1416A>G
ENST00000260665.11:c.*1416A>G	ENSP00000260665.7:n.*1416A>G
NM_133259.3:c.*1416A>G	NP_573566.2:n.*1416A>G
XR_002958896.1:n.5783A>G
NM_133259.4:c.*1416A>G MANE Select	NP_573566.2:n.*1416A>G