Canonical Allele Identifier: CA10585618
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252037
ClinVar RCV Id: RCV000237442
dbSNP Id: rs879255026

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116951G>T , CM000681.2:g.11116951G>T GRCh38
NC_000019.9:g.11227627G>T , CM000681.1:g.11227627G>T GRCh37
NC_000019.8:g.11088627G>T NCBI36
NG_009060.1:g.32571G>T , LRG_274:g.32571G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2056G>T ENSP00000252444.6:p.Glu686Ter
ENST00000559340.2:c.1705+739G>T ENSP00000453696.2:n.1705+739G>T
ENST00000560467.2:c.1678G>T ENSP00000453513.2:p.Glu560Ter
ENST00000558518.6:c.1798G>T MANE Select ENSP00000454071.1:p.Glu600Ter
ENST00000252444.9:c.2052G>T
ENST00000455727.6:c.1294G>T ENSP00000397829.2:p.Glu432Ter
ENST00000535915.5:c.1675G>T ENSP00000440520.1:p.Glu559Ter
ENST00000545707.5:c.1417G>T ENSP00000437639.1:p.Glu473Ter
ENST00000557933.5:c.1798G>T ENSP00000453557.1:p.Glu600Ter
ENST00000558013.5:c.1798G>T ENSP00000453346.1:p.Glu600Ter
ENST00000558518.5:c.1798G>T ENSP00000454071.1:p.Glu600Ter
ENST00000559340.1:c.426+739G>T
NM_000527.4:c.1798G>T , LRG_274t1:c.1798G>T NP_000518.1:p.Glu600Ter
NM_001195798.1:c.1798G>T NP_001182727.1:p.Glu600Ter
NM_001195799.1:c.1675G>T NP_001182728.1:p.Glu559Ter
NM_001195800.1:c.1294G>T NP_001182729.1:p.Glu432Ter
NM_001195803.1:c.1417G>T NP_001182732.1:p.Glu473Ter
XM_011528010.1:c.1798G>T XP_011526312.1:p.Glu600Ter
XM_011528011.1:c.1417G>T XP_011526313.1:p.Glu473Ter
XR_244074.2:n.1855+739G>T
XM_011528010.2:c.1798G>T XP_011526312.1:p.Glu600Ter
XR_001753685.2:n.1915G>T
XR_001753686.2:n.1822+739G>T
NM_000527.5:c.1798G>T MANE Select NP_000518.1:p.Glu600Ter
NM_001195798.2:c.1798G>T NP_001182727.1:p.Glu600Ter
NM_001195799.2:c.1675G>T NP_001182728.1:p.Glu559Ter
NM_001195800.2:c.1294G>T NP_001182729.1:p.Glu432Ter
NM_001195803.2:c.1417G>T NP_001182732.1:p.Glu473Ter