Canonical Allele Identifier: CA56723438
Gene: LRP1B HGNC NCBI

Linked Data

dbSNP Id: rs998607939
gnomAD v2: 2-141721054-C-T
gnomAD v3: 2-140963485-C-T
gnomAD v4: 2-140963485-C-T
MyVariant Identifiers: chr2:g.141721054C>T (hg19) chr2:g.140963485C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.140963485C>T , CM000664.2:g.140963485C>T GRCh38
NC_000002.11:g.141721054C>T , CM000664.1:g.141721054C>T GRCh37
NC_000002.10:g.141437524C>T NCBI36
NG_051023.1:g.1173979G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389484.8:c.2888-11545G>A MANE Select ENSP00000374135.3:n.2888-11545G>A
ENST00000389484.7:c.2888-11545G>A ENSP00000374135.3:n.2888-11545G>A
ENST00000434794.1:c.323-11545G>A ENSP00000413239.1:n.323-11545G>A
ENST00000618808.4:c.2546-11545G>A ENSP00000478868.1:n.2546-11545G>A
NM_018557.2:c.2888-11545G>A NP_061027.2:n.2888-11545G>A
XM_011511352.1:c.2999-11545G>A XP_011509654.1:n.2999-11545G>A
XM_017004341.1:c.2498-11545G>A XP_016859830.1:n.2498-11545G>A
XR_001738778.1:n.4622-11545G>A
NM_018557.3:c.2888-11545G>A MANE Select NP_061027.2:n.2888-11545G>A
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