Canonical Allele Identifier: CA46493326
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs956125250
gnomAD v4: 2-43887268-C-A
MyVariant Identifiers: chr2:g.44114407C>A (hg19) chr2:g.43887268C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887268C>A , CM000664.2:g.43887268C>A GRCh38
NC_000002.11:g.44114407C>A , CM000664.1:g.44114407C>A GRCh37
NC_000002.10:g.43967911C>A NCBI36
NG_008247.1:g.113738G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682612.1:c.2284G>T
ENST00000684454.1:n.9381G>T
ENST00000260665.12:c.*1332G>T MANE Select ENSP00000260665.7:n.*1332G>T
ENST00000260665.11:c.*1332G>T ENSP00000260665.7:n.*1332G>T
NM_133259.3:c.*1332G>T NP_573566.2:n.*1332G>T
XR_002958896.1:n.5699G>T
NM_133259.4:c.*1332G>T MANE Select NP_573566.2:n.*1332G>T
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