Canonical Allele Identifier: CA156255

Gene: LRP1

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

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