Canonical Allele Identifier: CA1293501232
Gene: LRP1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.141470940C>G , CM000664.2:g.141470940C>G GRCh38
NC_000002.11:g.142228509C>G , CM000664.1:g.142228509C>G GRCh37
NC_000002.10:g.141944979C>G NCBI36
NG_051023.1:g.666524G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389484.8:c.343+9456G>C MANE Select ENSP00000374135.3:n.343+9456G>C
ENST00000389484.7:c.343+9456G>C ENSP00000374135.3:n.343+9456G>C
ENST00000434794.1:c.205+339339G>C ENSP00000413239.1:n.205+339339G>C
NM_018557.2:c.343+9456G>C NP_061027.2:n.343+9456G>C
XM_011511352.1:c.454+9456G>C XP_011509654.1:n.454+9456G>C
XR_923384.1:n.1693C>G
XR_923385.1:n.1793C>G
XR_923386.1:n.624-97C>G
XM_017004341.1:c.-48+9456G>C XP_016859830.1:n.-48+9456G>C
XR_001738778.1:n.2077+9456G>C
NM_018557.3:c.343+9456G>C MANE Select NP_061027.2:n.343+9456G>C