Canonical Allele Identifier: CA46493292
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1007375933
gnomAD v2: 2-44114374-T-C
gnomAD v3: 2-43887235-T-C
gnomAD v4: 2-43887235-T-C
MyVariant Identifiers: chr2:g.44114374T>C (hg19) chr2:g.43887235T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43887235T>C , CM000664.2:g.43887235T>C GRCh38
NC_000002.11:g.44114374T>C , CM000664.1:g.44114374T>C GRCh37
NC_000002.10:g.43967878T>C NCBI36
NG_008247.1:g.113771A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682612.1:c.2317A>G
ENST00000684454.1:n.9414A>G
ENST00000260665.12:c.*1365A>G MANE Select ENSP00000260665.7:n.*1365A>G
ENST00000260665.11:c.*1365A>G ENSP00000260665.7:n.*1365A>G
NM_133259.3:c.*1365A>G NP_573566.2:n.*1365A>G
XR_002958896.1:n.5732A>G
NM_133259.4:c.*1365A>G MANE Select NP_573566.2:n.*1365A>G
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