Canonical Allele Identifier: CA404085419
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1072924
ClinVar RCV Id: RCV001385773
dbSNP Id: rs137853961
MyVariant Identifiers: chr19:g.11224123C>A (hg19) chr19:g.11113447C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113447C>A , CM000681.2:g.11113447C>A GRCh38
NC_000019.9:g.11224123C>A , CM000681.1:g.11224123C>A GRCh37
NC_000019.8:g.11085123C>A NCBI36
NG_009060.1:g.29067C>A , LRG_274:g.29067C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1614C>A ENSP00000252444.6:p.Cys538Ter
ENST00000559340.2:c.1356C>A ENSP00000453696.2:p.Cys452Ter
ENST00000560467.2:c.1236C>A ENSP00000453513.2:p.Cys412Ter
ENST00000558518.6:c.1356C>A MANE Select ENSP00000454071.1:p.Cys452Ter
ENST00000252444.9:c.1610C>A
ENST00000455727.6:c.852C>A ENSP00000397829.2:p.Cys284Ter
ENST00000535915.5:c.1233C>A ENSP00000440520.1:p.Cys411Ter
ENST00000545707.5:c.975C>A ENSP00000437639.1:p.Cys325Ter
ENST00000557933.5:c.1356C>A ENSP00000453557.1:p.Cys452Ter
ENST00000558013.5:c.1356C>A ENSP00000453346.1:p.Cys452Ter
ENST00000558518.5:c.1356C>A ENSP00000454071.1:p.Cys452Ter
ENST00000559340.1:c.77C>A
ENST00000560173.1:n.355C>A
ENST00000560467.1:c.836C>A
NM_000527.4:c.1356C>A , LRG_274t1:c.1356C>A NP_000518.1:p.Cys452Ter
NM_001195798.1:c.1356C>A NP_001182727.1:p.Cys452Ter
NM_001195799.1:c.1233C>A NP_001182728.1:p.Cys411Ter
NM_001195800.1:c.852C>A NP_001182729.1:p.Cys284Ter
NM_001195803.1:c.975C>A NP_001182732.1:p.Cys325Ter
XM_011528010.1:c.1356C>A XP_011526312.1:p.Cys452Ter
XM_011528011.1:c.975C>A XP_011526313.1:p.Cys325Ter
XR_244074.2:n.1506C>A
XM_011528010.2:c.1356C>A XP_011526312.1:p.Cys452Ter
XR_001753685.2:n.1473C>A
XR_001753686.2:n.1473C>A
NM_000527.5:c.1356C>A MANE Select NP_000518.1:p.Cys452Ter
NM_001195798.2:c.1356C>A NP_001182727.1:p.Cys452Ter
NM_001195799.2:c.1233C>A NP_001182728.1:p.Cys411Ter
NM_001195800.2:c.852C>A NP_001182729.1:p.Cys284Ter
NM_001195803.2:c.975C>A NP_001182732.1:p.Cys325Ter
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