Canonical Allele Identifier: CA2658841416

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43886856-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43886856C>A , CM000664.2:g.43886856C>A	GRCh38
NC_000002.11:g.44113995C>A , CM000664.1:g.44113995C>A	GRCh37
NC_000002.10:g.43967499C>A	NCBI36
NG_008247.1:g.114150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682612.1:c.2696G>T
ENST00000684454.1:n.9793G>T
ENST00000260665.12:c.*1744G>T MANE Select	ENSP00000260665.7:n.*1744G>T
ENST00000260665.11:c.*1744G>T	ENSP00000260665.7:n.*1744G>T
NM_133259.3:c.*1744G>T	NP_573566.2:n.*1744G>T
XR_002958896.1:n.6111G>T
NM_133259.4:c.*1744G>T MANE Select	NP_573566.2:n.*1744G>T