Canonical Allele Identifier: CA10585656
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252085
ClinVar RCV Id: RCV000238087
dbSNP Id: rs879255054

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120102T>G , CM000681.2:g.11120102T>G GRCh38
NC_000019.9:g.11230778T>G , CM000681.1:g.11230778T>G GRCh37
NC_000019.8:g.11091778T>G NCBI36
NG_009060.1:g.35722T>G , LRG_274:g.35722T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2114T>G ENSP00000252444.6:p.Phe705Cys
ENST00000559340.2:c.1716T>G ENSP00000453696.2:p.Ile572Met
ENST00000560467.2:c.1736T>G ENSP00000453513.2:p.Phe579Cys
ENST00000558518.6:c.1856T>G MANE Select ENSP00000454071.1:p.Phe619Cys
ENST00000252444.9:c.2110T>G
ENST00000455727.6:c.1352T>G ENSP00000397829.2:p.Phe451Cys
ENST00000535915.5:c.1733T>G ENSP00000440520.1:p.Phe578Cys
ENST00000545707.5:c.1475T>G ENSP00000437639.1:p.Phe492Cys
ENST00000557933.5:c.1856T>G ENSP00000453557.1:p.Phe619Cys
ENST00000558013.5:c.1856T>G ENSP00000453346.1:p.Phe619Cys
ENST00000558518.5:c.1856T>G ENSP00000454071.1:p.Phe619Cys
ENST00000559340.1:c.437T>G
NM_000527.4:c.1856T>G , LRG_274t1:c.1856T>G NP_000518.1:p.Phe619Cys
NM_001195798.1:c.1856T>G NP_001182727.1:p.Phe619Cys
NM_001195799.1:c.1733T>G NP_001182728.1:p.Phe578Cys
NM_001195800.1:c.1352T>G NP_001182729.1:p.Phe451Cys
NM_001195803.1:c.1475T>G NP_001182732.1:p.Phe492Cys
XM_011528010.1:c.1856T>G XP_011526312.1:p.Phe619Cys
XM_011528011.1:c.1475T>G XP_011526313.1:p.Phe492Cys
XR_244074.2:n.1866T>G
XM_011528010.2:c.1856T>G XP_011526312.1:p.Phe619Cys
XR_001753685.2:n.1973T>G
XR_001753686.2:n.1833T>G
NM_000527.5:c.1856T>G MANE Select NP_000518.1:p.Phe619Cys
NM_001195798.2:c.1856T>G NP_001182727.1:p.Phe619Cys
NM_001195799.2:c.1733T>G NP_001182728.1:p.Phe578Cys
NM_001195800.2:c.1352T>G NP_001182729.1:p.Phe451Cys
NM_001195803.2:c.1475T>G NP_001182732.1:p.Phe492Cys