Canonical Allele Identifier: CA404082682
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441206
ClinVar RCV Id: RCV000509447
dbSNP Id: rs1555804467
MyVariant Identifiers: chr19:g.11221374C>A (hg19) chr19:g.11110698C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110698C>A , CM000681.2:g.11110698C>A GRCh38
NC_000019.9:g.11221374C>A , CM000681.1:g.11221374C>A GRCh37
NC_000019.8:g.11082374C>A NCBI36
NG_009060.1:g.26318C>A , LRG_274:g.26318C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1245C>A ENSP00000252444.6:p.Cys415Ter
ENST00000559340.2:c.987C>A ENSP00000453696.2:p.Cys329Ter
ENST00000560467.2:c.941-816C>A ENSP00000453513.2:n.941-816C>A
ENST00000558518.6:c.987C>A MANE Select ENSP00000454071.1:p.Cys329Ter
ENST00000252444.9:c.1241C>A
ENST00000455727.6:c.483C>A ENSP00000397829.2:p.Cys161Ter
ENST00000535915.5:c.864C>A ENSP00000440520.1:p.Cys288Ter
ENST00000545707.5:c.606C>A ENSP00000437639.1:p.Cys202Ter
ENST00000557933.5:c.987C>A ENSP00000453557.1:p.Cys329Ter
ENST00000558013.5:c.987C>A ENSP00000453346.1:p.Cys329Ter
ENST00000558518.5:c.987C>A ENSP00000454071.1:p.Cys329Ter
ENST00000560467.1:c.541-816C>A
NM_000527.4:c.987C>A , LRG_274t1:c.987C>A NP_000518.1:p.Cys329Ter
NM_001195798.1:c.987C>A NP_001182727.1:p.Cys329Ter
NM_001195799.1:c.864C>A NP_001182728.1:p.Cys288Ter
NM_001195800.1:c.483C>A NP_001182729.1:p.Cys161Ter
NM_001195803.1:c.606C>A NP_001182732.1:p.Cys202Ter
XM_011528010.1:c.987C>A XP_011526312.1:p.Cys329Ter
XM_011528011.1:c.606C>A XP_011526313.1:p.Cys202Ter
XR_244074.2:n.1137C>A
XM_011528010.2:c.987C>A XP_011526312.1:p.Cys329Ter
XR_001753685.2:n.1104C>A
XR_001753686.2:n.1104C>A
NM_000527.5:c.987C>A MANE Select NP_000518.1:p.Cys329Ter
NM_001195798.2:c.987C>A NP_001182727.1:p.Cys329Ter
NM_001195799.2:c.864C>A NP_001182728.1:p.Cys288Ter
NM_001195800.2:c.483C>A NP_001182729.1:p.Cys161Ter
NM_001195803.2:c.606C>A NP_001182732.1:p.Cys202Ter
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