Canonical Allele Identifier: CA16609818
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403643
ClinVar RCV Id: RCV000455807
dbSNP Id: rs1060499927

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116894A>T , CM000681.2:g.11116894A>T GRCh38
NC_000019.9:g.11227570A>T , CM000681.1:g.11227570A>T GRCh37
NC_000019.8:g.11088570A>T NCBI36
NG_009060.1:g.32514A>T , LRG_274:g.32514A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1999A>T ENSP00000252444.6:p.Lys667Ter
ENST00000559340.2:c.1705+682A>T ENSP00000453696.2:n.1705+682A>T
ENST00000560467.2:c.1621A>T ENSP00000453513.2:p.Lys541Ter
ENST00000558518.6:c.1741A>T MANE Select ENSP00000454071.1:p.Lys581Ter
ENST00000252444.9:c.1995A>T
ENST00000455727.6:c.1237A>T ENSP00000397829.2:p.Lys413Ter
ENST00000535915.5:c.1618A>T ENSP00000440520.1:p.Lys540Ter
ENST00000545707.5:c.1360A>T ENSP00000437639.1:p.Lys454Ter
ENST00000557933.5:c.1741A>T ENSP00000453557.1:p.Lys581Ter
ENST00000558013.5:c.1741A>T ENSP00000453346.1:p.Lys581Ter
ENST00000558518.5:c.1741A>T ENSP00000454071.1:p.Lys581Ter
ENST00000559340.1:c.426+682A>T
NM_000527.4:c.1741A>T , LRG_274t1:c.1741A>T NP_000518.1:p.Lys581Ter
NM_001195798.1:c.1741A>T NP_001182727.1:p.Lys581Ter
NM_001195799.1:c.1618A>T NP_001182728.1:p.Lys540Ter
NM_001195800.1:c.1237A>T NP_001182729.1:p.Lys413Ter
NM_001195803.1:c.1360A>T NP_001182732.1:p.Lys454Ter
XM_011528010.1:c.1741A>T XP_011526312.1:p.Lys581Ter
XM_011528011.1:c.1360A>T XP_011526313.1:p.Lys454Ter
XR_244074.2:n.1855+682A>T
XM_011528010.2:c.1741A>T XP_011526312.1:p.Lys581Ter
XR_001753685.2:n.1858A>T
XR_001753686.2:n.1822+682A>T
NM_000527.5:c.1741A>T MANE Select NP_000518.1:p.Lys581Ter
NM_001195798.2:c.1741A>T NP_001182727.1:p.Lys581Ter
NM_001195799.2:c.1618A>T NP_001182728.1:p.Lys540Ter
NM_001195800.2:c.1237A>T NP_001182729.1:p.Lys413Ter
NM_001195803.2:c.1360A>T NP_001182732.1:p.Lys454Ter