Canonical Allele Identifier: CA769090183
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs949853426
gnomAD v4: 2-43887330-T-C
MyVariant Identifiers: chr2:g.44114469T>C (hg19) chr2:g.43887330T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887330T>C , CM000664.2:g.43887330T>C GRCh38
NC_000002.11:g.44114469T>C , CM000664.1:g.44114469T>C GRCh37
NC_000002.10:g.43967973T>C NCBI36
NG_008247.1:g.113676A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2222A>G
ENST00000684454.1:n.9319A>G
ENST00000260665.12:c.*1270A>G MANE Select ENSP00000260665.7:n.*1270A>G
ENST00000260665.11:c.*1270A>G ENSP00000260665.7:n.*1270A>G
NM_133259.3:c.*1270A>G NP_573566.2:n.*1270A>G
XR_002958896.1:n.5637A>G
NM_133259.4:c.*1270A>G MANE Select NP_573566.2:n.*1270A>G
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