Canonical Allele Identifier: CA605294924

Gene: LRP1

Linked Data

• dbSNP Id: rs1434854526
• gnomAD v2: 12-57527250-C-T
• gnomAD v3: 12-57133467-C-T
• gnomAD v4: 12-57133467-C-T
• MyVariant Identifiers: chr12:g.57527250C>T (hg19) ; chr12:g.57133467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57133467C>T , CM000674.2:g.57133467C>T	GRCh38
NC_000012.11:g.57527250C>T , CM000674.1:g.57527250C>T	GRCh37
NC_000012.10:g.55813517C>T	NCBI36
NG_016444.1:g.9969C>T
NG_021272.2:g.3673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243077.8:c.67+4436C>T MANE Select	ENSP00000243077.3:n.67+4436C>T
ENST00000243077.7:c.67+4436C>T	ENSP00000243077.3:n.67+4436C>T
ENST00000338962.8:c.67+4436C>T	ENSP00000341264.4:n.67+4436C>T
ENST00000553277.5:c.67+4436C>T	ENSP00000451449.1:n.67+4436C>T
ENST00000554174.1:c.67+4436C>T	ENSP00000451737.1:n.67+4436C>T
NM_002332.2:c.67+4436C>T	NP_002323.2:n.67+4436C>T
XM_017019303.1:c.67+4436C>T	XP_016874792.1:n.67+4436C>T
NM_002332.3:c.67+4436C>T MANE Select	NP_002323.2:n.67+4436C>T