Canonical Allele Identifier: CA237753952

Gene: LRP1

Linked Data

• dbSNP Id: rs922839612
• gnomAD v3: 12-57140765-C-G
• gnomAD v4: 12-57140765-C-G
• MyVariant Identifiers: chr12:g.57534548C>G (hg19) ; chr12:g.57140765C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57140765C>G , CM000674.2:g.57140765C>G	GRCh38
NC_000012.11:g.57534548C>G , CM000674.1:g.57534548C>G	GRCh37
NC_000012.10:g.55820815C>G	NCBI36
NG_016444.1:g.17267C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000243077.8:c.191-609C>G MANE Select	ENSP00000243077.3:n.191-609C>G
ENST00000243077.7:c.191-609C>G	ENSP00000243077.3:n.191-609C>G
ENST00000338962.8:c.191-609C>G	ENSP00000341264.4:n.191-609C>G
ENST00000553277.5:c.191-609C>G	ENSP00000451449.1:n.191-609C>G
ENST00000554174.1:c.191-609C>G	ENSP00000451737.1:n.191-609C>G
NM_002332.2:c.191-609C>G	NP_002323.2:n.191-609C>G
XM_017019303.1:c.191-609C>G	XP_016874792.1:n.191-609C>G
NM_002332.3:c.191-609C>G MANE Select	NP_002323.2:n.191-609C>G