Canonical Allele Identifier: CA10613876
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 336116
ClinVar RCV Id: RCV000314499
dbSNP Id: rs886056046
gnomAD v2: 2-44114152-G-A
gnomAD v3: 2-43887013-G-A
gnomAD v4: 2-43887013-G-A
MyVariant Identifiers: chr2:g.44114152G>A (hg19) chr2:g.43887013G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887013G>A , CM000664.2:g.43887013G>A GRCh38
NC_000002.11:g.44114152G>A , CM000664.1:g.44114152G>A GRCh37
NC_000002.10:g.43967656G>A NCBI36
NG_008247.1:g.113993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2539C>T
ENST00000684454.1:n.9636C>T
ENST00000260665.12:c.*1587C>T MANE Select ENSP00000260665.7:n.*1587C>T
ENST00000260665.11:c.*1587C>T ENSP00000260665.7:n.*1587C>T
NM_133259.3:c.*1587C>T NP_573566.2:n.*1587C>T
XR_002958896.1:n.5954C>T
NM_133259.4:c.*1587C>T MANE Select NP_573566.2:n.*1587C>T
Search 100 bp 5'
Search 100 bp 3'