Canonical Allele Identifier: CA404093636
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430792
ClinVar RCV Id: RCV000495860
dbSNP Id: rs1131692220

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120426C>T , CM000681.2:g.11120426C>T GRCh38
NC_000019.9:g.11231102C>T , CM000681.1:g.11231102C>T GRCh37
NC_000019.8:g.11092102C>T NCBI36
NG_009060.1:g.36046C>T , LRG_274:g.36046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2302C>T ENSP00000252444.6:p.Leu768Phe
ENST00000559340.2:c.*113C>T ENSP00000453696.2:n.*113C>T
ENST00000560467.2:c.1924C>T ENSP00000453513.2:p.Leu642Phe
ENST00000558518.6:c.2044C>T MANE Select ENSP00000454071.1:p.Leu682Phe
ENST00000252444.9:c.2298C>T
ENST00000455727.6:c.1540C>T ENSP00000397829.2:p.Leu514Phe
ENST00000535915.5:c.1921C>T ENSP00000440520.1:p.Leu641Phe
ENST00000545707.5:c.1606+193C>T ENSP00000437639.1:n.1606+193C>T
ENST00000557933.5:c.2044C>T ENSP00000453557.1:p.Leu682Phe
ENST00000558013.5:c.2044C>T ENSP00000453346.1:p.Leu682Phe
ENST00000558518.5:c.2044C>T ENSP00000454071.1:p.Leu682Phe
NM_000527.4:c.2044C>T , LRG_274t1:c.2044C>T NP_000518.1:p.Leu682Phe
NM_001195798.1:c.2044C>T NP_001182727.1:p.Leu682Phe
NM_001195799.1:c.1921C>T NP_001182728.1:p.Leu641Phe
NM_001195800.1:c.1540C>T NP_001182729.1:p.Leu514Phe
NM_001195803.1:c.1606+193C>T NP_001182732.1:n.1606+193C>T
XM_011528010.1:c.2044C>T XP_011526312.1:p.Leu682Phe
XM_011528011.1:c.1663C>T XP_011526313.1:p.Leu555Phe
XR_244074.2:n.2054C>T
XM_011528010.2:c.2044C>T XP_011526312.1:p.Leu682Phe
XR_001753685.2:n.2161C>T
XR_001753686.2:n.2021C>T
NM_000527.5:c.2044C>T MANE Select NP_000518.1:p.Leu682Phe
NM_001195798.2:c.2044C>T NP_001182727.1:p.Leu682Phe
NM_001195799.2:c.1921C>T NP_001182728.1:p.Leu641Phe
NM_001195800.2:c.1540C>T NP_001182729.1:p.Leu514Phe
NM_001195803.2:c.1606+193C>T NP_001182732.1:n.1606+193C>T