Canonical Allele Identifier: CA1029994820
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 895300
ClinVar RCV Id: RCV001137344
dbSNP Id: rs1670288640
gnomAD v3: 2-43886881-C-T
gnomAD v4: 2-43886881-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43886881C>T , CM000664.2:g.43886881C>T GRCh38
NC_000002.11:g.44114020C>T , CM000664.1:g.44114020C>T GRCh37
NC_000002.10:g.43967524C>T NCBI36
NG_008247.1:g.114125G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2671G>A
ENST00000684454.1:n.9768G>A
ENST00000260665.12:c.*1719G>A MANE Select ENSP00000260665.7:n.*1719G>A
ENST00000260665.11:c.*1719G>A ENSP00000260665.7:n.*1719G>A
NM_133259.3:c.*1719G>A NP_573566.2:n.*1719G>A
XR_002958896.1:n.6086G>A
NM_133259.4:c.*1719G>A MANE Select NP_573566.2:n.*1719G>A
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