Allele Registry

Canonical Allele Identifier: CA15743545

Gene: LRP1 HGNC NCBI
LRP1-AS HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.57147482C>T

GRCh37 chr12:g.57541265C>T

Linked Data - Sequence & Population

gnomAD v2:

12:57541265 C / T

gnomAD v3:

12:57147482 C / T

gnomAD v4:

chr12-57147482-C-T

Joint Max Group AF 0.32807829 (EAS)

Genomes Max Group AF 0.32820571 (EAS)

Exomes Max Group AF 0.06717407 (NFE)

Linked Data - NCBI & NCI

dbSNP:

2306692

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57147482C>T , CM000674.2:g.57147482C>T	GRCh38
NC_000012.11:g.57541265C>T , CM000674.1:g.57541265C>T	GRCh37
NC_000012.10:g.55827532C>T	NCBI36
NG_016444.1:g.23984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243077.8:c.841+1992C>T (LRP1) MANE Select	ENSP00000243077.3:n.841+1992C>T
ENST00000243077.7:c.841+1992C>T (LRP1)	ENSP00000243077.3:n.841+1992C>T
ENST00000338962.8:c.842-1499C>T (LRP1)	ENSP00000341264.4:n.842-1499C>T
ENST00000553277.5:c.841+1992C>T (LRP1)	ENSP00000451449.1:n.841+1992C>T
ENST00000554174.1:c.841+1992C>T (LRP1)	ENSP00000451737.1:n.841+1992C>T
NM_002332.2:c.841+1992C>T (LRP1)	NP_002323.2:n.841+1992C>T
NR_131938.1:n.138G>A (LRP1-AS)
NR_131939.1:n.138G>A (LRP1-AS)
XM_017019303.1:c.841+1992C>T (LRP1)	XP_016874792.1:n.841+1992C>T
NM_002332.3:c.841+1992C>T (LRP1) MANE Select	NP_002323.2:n.841+1992C>T

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