Canonical Allele Identifier: CA13668372
Gene: LRP1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57211019A>G
GRCh37 chr12:g.57604802A>G
gnomAD v2:
12:57604802 A / G
gnomAD v3:
12:57211019 A / G
gnomAD v4:
chr12-57211019-A-G
Joint Max Group AF 0.75286456 (SAS)
Genomes Max Group AF 0.7249308 (SAS)
Exomes Max Group AF 0.75358815 (SAS)
ClinVar RCV:
RCV001655369
ClinVar Variation:
1251016
dbSNP:
1800164
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57211019A>G , CM000674.2:g.57211019A>G GRCh38
NC_000012.11:g.57604802A>G , CM000674.1:g.57604802A>G GRCh37
NC_000012.10:g.55891069A>G NCBI36
NG_016444.1:g.87521A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000243077.8:c.12916+140A>G MANE Select ENSP00000243077.3:n.12916+140A>G
ENST00000243077.7:c.12916+140A>G ENSP00000243077.3:n.12916+140A>G
ENST00000556356.1:n.3610+140A>G
NM_002332.2:c.12916+140A>G NP_002323.2:n.12916+140A>G
XM_017019303.1:c.12967+140A>G XP_016874792.1:n.12967+140A>G
NM_002332.3:c.12916+140A>G MANE Select NP_002323.2:n.12916+140A>G
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