Canonical Allele Identifier: CA536272124

Gene: LRP1B

Linked Data

• dbSNP Id: rs34603242
• gnomAD v2: 2-141795708-T-TAA
• gnomAD v3: 2-141038139-T-TAA
• gnomAD v4: 2-141038139-T-TAA
• MyVariant Identifiers: chr2:g.141795711_141795712insAA (hg19) ; chr2:g.141795708_141795709insAA (hg19) ; chr2:g.141038142_141038143insAA (hg38) ; chr2:g.141038139_141038140insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.141038148_141038149dup , CM000664.2:g.141038148_141038149dup	GRCh38
NC_000002.11:g.141795717_141795718dup , CM000664.1:g.141795717_141795718dup	GRCh37
NC_000002.10:g.141512187_141512188dup	NCBI36
NG_051023.1:g.1099323_1099324dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000389484.8:c.1789+10845_1789+10846dup MANE Select	ENSP00000374135.3:n.1789+10845_1789+10846dup
ENST00000389484.7:c.1789+10845_1789+10846dup	ENSP00000374135.3:n.1789+10845_1789+10846dup
ENST00000434794.1:c.206-55865_206-55864dup	ENSP00000413239.1:n.206-55865_206-55864dup
ENST00000618808.4:c.1447+10845_1447+10846dup	ENSP00000478868.1:n.1447+10845_1447+10846dup
NM_018557.2:c.1789+10845_1789+10846dup	NP_061027.2:n.1789+10845_1789+10846dup
XM_011511352.1:c.1900+10845_1900+10846dup	XP_011509654.1:n.1900+10845_1900+10846dup
XM_017004341.1:c.1399+10845_1399+10846dup	XP_016859830.1:n.1399+10845_1399+10846dup
XR_001738778.1:n.3523+10845_3523+10846dup
NM_018557.3:c.1789+10845_1789+10846dup MANE Select	NP_061027.2:n.1789+10845_1789+10846dup