Canonical Allele Identifier: CA2658841432
Gene: LRPPRC HGNC NCBI

Linked Data

gnomAD v4: 2-43886866-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886866C>A , CM000664.2:g.43886866C>A GRCh38
NC_000002.11:g.44114005C>A , CM000664.1:g.44114005C>A GRCh37
NC_000002.10:g.43967509C>A NCBI36
NG_008247.1:g.114140G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2686G>T
ENST00000684454.1:n.9783G>T
ENST00000260665.12:c.*1734G>T MANE Select ENSP00000260665.7:n.*1734G>T
ENST00000260665.11:c.*1734G>T ENSP00000260665.7:n.*1734G>T
NM_133259.3:c.*1734G>T NP_573566.2:n.*1734G>T
XR_002958896.1:n.6101G>T
NM_133259.4:c.*1734G>T MANE Select NP_573566.2:n.*1734G>T
Search 100 bp 5'
Search 100 bp 3'