Canonical Allele Identifier: CA46493330
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs992437521
MyVariant Identifiers: chr2:g.44114417C>T (hg19) chr2:g.43887278C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887278C>T , CM000664.2:g.43887278C>T GRCh38
NC_000002.11:g.44114417C>T , CM000664.1:g.44114417C>T GRCh37
NC_000002.10:g.43967921C>T NCBI36
NG_008247.1:g.113728G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682612.1:c.2274G>A
ENST00000684454.1:n.9371G>A
ENST00000260665.12:c.*1322G>A MANE Select ENSP00000260665.7:n.*1322G>A
ENST00000260665.11:c.*1322G>A ENSP00000260665.7:n.*1322G>A
NM_133259.3:c.*1322G>A NP_573566.2:n.*1322G>A
XR_002958896.1:n.5689G>A
NM_133259.4:c.*1322G>A MANE Select NP_573566.2:n.*1322G>A
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