Canonical Allele Identifier: CA605296410

Gene: LRP1

Linked Data

• dbSNP Id: rs1253294310
• gnomAD v2: 12-57534555-G-A
• gnomAD v3: 12-57140772-G-A
• gnomAD v4: 12-57140772-G-A
• MyVariant Identifiers: chr12:g.57534555G>A (hg19) ; chr12:g.57140772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57140772G>A , CM000674.2:g.57140772G>A	GRCh38
NC_000012.11:g.57534555G>A , CM000674.1:g.57534555G>A	GRCh37
NC_000012.10:g.55820822G>A	NCBI36
NG_016444.1:g.17274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243077.8:c.191-602G>A MANE Select	ENSP00000243077.3:n.191-602G>A
ENST00000243077.7:c.191-602G>A	ENSP00000243077.3:n.191-602G>A
ENST00000338962.8:c.191-602G>A	ENSP00000341264.4:n.191-602G>A
ENST00000553277.5:c.191-602G>A	ENSP00000451449.1:n.191-602G>A
ENST00000554174.1:c.191-602G>A	ENSP00000451737.1:n.191-602G>A
NM_002332.2:c.191-602G>A	NP_002323.2:n.191-602G>A
XM_017019303.1:c.191-602G>A	XP_016874792.1:n.191-602G>A
NM_002332.3:c.191-602G>A MANE Select	NP_002323.2:n.191-602G>A