Canonical Allele Identifier: CA156255
Gene: LRP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132834
ClinVar RCV Id: RCV000119304 RCV000258847
dbSNP Id: rs483353013
gnomAD v2: 12-57569429-A-G
gnomAD v4: 12-57175646-A-G
MyVariant Identifiers: chr12:g.57569429A>G (hg19) chr12:g.57175646A>G (hg38)
PubMed: PMID:26142438
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57175646A>G , CM000674.2:g.57175646A>G GRCh38
NC_000012.11:g.57569429A>G , CM000674.1:g.57569429A>G GRCh37
NC_000012.10:g.55855696A>G NCBI36
NG_016444.1:g.52148A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000243077.8:c.3734A>G MANE Select ENSP00000243077.3:p.Lys1245Arg
ENST00000243077.7:c.3734A>G ENSP00000243077.3:p.Lys1245Arg
NM_002332.2:c.3734A>G NP_002323.2:p.Lys1245Arg
XM_017019303.1:c.3785A>G XP_016874792.1:p.Lys1262Arg
NM_002332.3:c.3734A>G MANE Select NP_002323.2:p.Lys1245Arg
Search 100 bp 5'
Search 100 bp 3'