Canonical Allele Identifier: CA10613407
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 336125
ClinVar RCV Id: RCV000316121
dbSNP Id: rs111381413
gnomAD v2: 2-44114368-G-A
gnomAD v3: 2-43887229-G-A
gnomAD v4: 2-43887229-G-A
MyVariant Identifiers: chr2:g.44114368G>A (hg19) chr2:g.43887229G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887229G>A , CM000664.2:g.43887229G>A GRCh38
NC_000002.11:g.44114368G>A , CM000664.1:g.44114368G>A GRCh37
NC_000002.10:g.43967872G>A NCBI36
NG_008247.1:g.113777C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2323C>T
ENST00000684454.1:n.9420C>T
ENST00000260665.12:c.*1371C>T MANE Select ENSP00000260665.7:n.*1371C>T
ENST00000260665.11:c.*1371C>T ENSP00000260665.7:n.*1371C>T
NM_133259.3:c.*1371C>T NP_573566.2:n.*1371C>T
XR_002958896.1:n.5738C>T
NM_133259.4:c.*1371C>T MANE Select NP_573566.2:n.*1371C>T
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