Canonical Allele Identifier: CA404082744
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2633776
ClinVar RCV Id: RCV003400247
MyVariant Identifiers: chr19:g.11221407C>A (hg19) chr19:g.11110731C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110731C>A , CM000681.2:g.11110731C>A GRCh38
NC_000019.9:g.11221407C>A , CM000681.1:g.11221407C>A GRCh37
NC_000019.8:g.11082407C>A NCBI36
NG_009060.1:g.26351C>A , LRG_274:g.26351C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1278C>A ENSP00000252444.6:p.Cys426Ter
ENST00000559340.2:c.1020C>A ENSP00000453696.2:p.Cys340Ter
ENST00000560467.2:c.941-783C>A ENSP00000453513.2:n.941-783C>A
ENST00000558518.6:c.1020C>A MANE Select ENSP00000454071.1:p.Cys340Ter
ENST00000252444.9:c.1274C>A
ENST00000455727.6:c.516C>A ENSP00000397829.2:p.Cys172Ter
ENST00000535915.5:c.897C>A ENSP00000440520.1:p.Cys299Ter
ENST00000545707.5:c.639C>A ENSP00000437639.1:p.Cys213Ter
ENST00000557933.5:c.1020C>A ENSP00000453557.1:p.Cys340Ter
ENST00000558013.5:c.1020C>A ENSP00000453346.1:p.Cys340Ter
ENST00000558518.5:c.1020C>A ENSP00000454071.1:p.Cys340Ter
ENST00000560173.1:n.19C>A
ENST00000560467.1:c.541-783C>A
NM_000527.4:c.1020C>A , LRG_274t1:c.1020C>A NP_000518.1:p.Cys340Ter
NM_001195798.1:c.1020C>A NP_001182727.1:p.Cys340Ter
NM_001195799.1:c.897C>A NP_001182728.1:p.Cys299Ter
NM_001195800.1:c.516C>A NP_001182729.1:p.Cys172Ter
NM_001195803.1:c.639C>A NP_001182732.1:p.Cys213Ter
XM_011528010.1:c.1020C>A XP_011526312.1:p.Cys340Ter
XM_011528011.1:c.639C>A XP_011526313.1:p.Cys213Ter
XR_244074.2:n.1170C>A
XM_011528010.2:c.1020C>A XP_011526312.1:p.Cys340Ter
XR_001753685.2:n.1137C>A
XR_001753686.2:n.1137C>A
NM_000527.5:c.1020C>A MANE Select NP_000518.1:p.Cys340Ter
NM_001195798.2:c.1020C>A NP_001182727.1:p.Cys340Ter
NM_001195799.2:c.897C>A NP_001182728.1:p.Cys299Ter
NM_001195800.2:c.516C>A NP_001182729.1:p.Cys172Ter
NM_001195803.2:c.639C>A NP_001182732.1:p.Cys213Ter
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