Canonical Allele Identifier: CA6642212
Gene: LRP1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.57141483C>A
GRCh37 chr12:g.57535266C>A
Revel Score:
ENST00000553277 0.706
ENST00000243077 (MANE Select) 0.706
ENST00000338962 0.706
ENST00000554174 0.706
gnomAD v2:
12:57535266 C / A
gnomAD v3:
12:57141483 C / A
gnomAD v4:
chr12-57141483-C-A
Joint Max Group AF 0.00000763 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
dbSNP:
1799986
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57141483C>A , CM000674.2:g.57141483C>A GRCh38
NC_000012.11:g.57535266C>A , CM000674.1:g.57535266C>A GRCh37
NC_000012.10:g.55821533C>A NCBI36
NG_016444.1:g.17985C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243077.8:c.300C>A MANE Select ENSP00000243077.3:p.Asp100Glu
ENST00000243077.7:c.300C>A ENSP00000243077.3:p.Asp100Glu
ENST00000338962.8:c.300C>A ENSP00000341264.4:p.Asp100Glu
ENST00000553277.5:c.300C>A ENSP00000451449.1:p.Asp100Glu
ENST00000554174.1:c.300C>A ENSP00000451737.1:p.Asp100Glu
NM_002332.2:c.300C>A NP_002323.2:p.Asp100Glu
XM_017019303.1:c.300C>A XP_016874792.1:p.Asp100Glu
NM_002332.3:c.300C>A MANE Select NP_002323.2:p.Asp100Glu
Search 100 bp 5'
Search 100 bp 3'