Canonical Allele Identifier: CA532289386
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs371572374
gnomAD v2: 2-44114281-T-G
MyVariant Identifiers: chr2:g.44114281T>G (hg19) chr2:g.43887142T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887142T>G , CM000664.2:g.43887142T>G GRCh38
NC_000002.11:g.44114281T>G , CM000664.1:g.44114281T>G GRCh37
NC_000002.10:g.43967785T>G NCBI36
NG_008247.1:g.113864A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2410A>C
ENST00000684454.1:n.9507A>C
ENST00000260665.12:c.*1458A>C MANE Select ENSP00000260665.7:n.*1458A>C
ENST00000260665.11:c.*1458A>C ENSP00000260665.7:n.*1458A>C
NM_133259.3:c.*1458A>C NP_573566.2:n.*1458A>C
XR_002958896.1:n.5825A>C
NM_133259.4:c.*1458A>C MANE Select NP_573566.2:n.*1458A>C
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