Canonical Allele Identifier: CA57289598
Gene: LRP1B HGNC NCBI

Linked Data

dbSNP Id: rs1013451982
MyVariant Identifiers: chr2:g.141795444C>T (hg19) chr2:g.141037875C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.141037875C>T , CM000664.2:g.141037875C>T GRCh38
NC_000002.11:g.141795444C>T , CM000664.1:g.141795444C>T GRCh37
NC_000002.10:g.141511914C>T NCBI36
NG_051023.1:g.1099589G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389484.8:c.1789+11111G>A MANE Select ENSP00000374135.3:n.1789+11111G>A
ENST00000389484.7:c.1789+11111G>A ENSP00000374135.3:n.1789+11111G>A
ENST00000434794.1:c.206-55599G>A ENSP00000413239.1:n.206-55599G>A
ENST00000618808.4:c.1447+11111G>A ENSP00000478868.1:n.1447+11111G>A
NM_018557.2:c.1789+11111G>A NP_061027.2:n.1789+11111G>A
XM_011511352.1:c.1900+11111G>A XP_011509654.1:n.1900+11111G>A
XM_017004341.1:c.1399+11111G>A XP_016859830.1:n.1399+11111G>A
XR_001738778.1:n.3523+11111G>A
NM_018557.3:c.1789+11111G>A MANE Select NP_061027.2:n.1789+11111G>A
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