Canonical Allele Identifier: CA769089827
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1201061476
gnomAD v3: 2-43887126-A-G
gnomAD v4: 2-43887126-A-G
MyVariant Identifiers: chr2:g.44114265A>G (hg19) chr2:g.43887126A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887126A>G , CM000664.2:g.43887126A>G GRCh38
NC_000002.11:g.44114265A>G , CM000664.1:g.44114265A>G GRCh37
NC_000002.10:g.43967769A>G NCBI36
NG_008247.1:g.113880T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2426T>C
ENST00000684454.1:n.9523T>C
ENST00000260665.12:c.*1474T>C MANE Select ENSP00000260665.7:n.*1474T>C
ENST00000260665.11:c.*1474T>C ENSP00000260665.7:n.*1474T>C
NM_133259.3:c.*1474T>C NP_573566.2:n.*1474T>C
XR_002958896.1:n.5841T>C
NM_133259.4:c.*1474T>C MANE Select NP_573566.2:n.*1474T>C
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