Canonical Allele Identifier: CA237750813

Gene: LRP1

Linked Data

• dbSNP Id: rs546432876
• gnomAD v3: 12-57133478-C-G
• gnomAD v4: 12-57133478-C-G
• MyVariant Identifiers: chr12:g.57527261C>G (hg19) ; chr12:g.57133478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57133478C>G , CM000674.2:g.57133478C>G	GRCh38
NC_000012.11:g.57527261C>G , CM000674.1:g.57527261C>G	GRCh37
NC_000012.10:g.55813528C>G	NCBI36
NG_016444.1:g.9980C>G
NG_021272.2:g.3662G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243077.8:c.67+4447C>G MANE Select	ENSP00000243077.3:n.67+4447C>G
ENST00000243077.7:c.67+4447C>G	ENSP00000243077.3:n.67+4447C>G
ENST00000338962.8:c.67+4447C>G	ENSP00000341264.4:n.67+4447C>G
ENST00000553277.5:c.67+4447C>G	ENSP00000451449.1:n.67+4447C>G
ENST00000554174.1:c.67+4447C>G	ENSP00000451737.1:n.67+4447C>G
NM_002332.2:c.67+4447C>G	NP_002323.2:n.67+4447C>G
XM_017019303.1:c.67+4447C>G	XP_016874792.1:n.67+4447C>G
NM_002332.3:c.67+4447C>G MANE Select	NP_002323.2:n.67+4447C>G