Canonical Allele Identifier: CA2749706350
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886882T>A , CM000664.2:g.43886882T>A GRCh38
NC_000002.11:g.44114021T>A , CM000664.1:g.44114021T>A GRCh37
NC_000002.10:g.43967525T>A NCBI36
NG_008247.1:g.114124A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2670A>T
ENST00000684454.1:n.9767A>T
ENST00000260665.12:c.*1718A>T MANE Select ENSP00000260665.7:n.*1718A>T
ENST00000260665.11:c.*1718A>T ENSP00000260665.7:n.*1718A>T
NM_133259.3:c.*1718A>T NP_573566.2:n.*1718A>T
XR_002958896.1:n.6085A>T
NM_133259.4:c.*1718A>T MANE Select NP_573566.2:n.*1718A>T