Canonical Allele Identifier: CA404082707
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11110709-A-C
MyVariant Identifiers: chr19:g.11221385A>C (hg19) chr19:g.11110709A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110709A>C , CM000681.2:g.11110709A>C GRCh38
NC_000019.9:g.11221385A>C , CM000681.1:g.11221385A>C GRCh37
NC_000019.8:g.11082385A>C NCBI36
NG_009060.1:g.26329A>C , LRG_274:g.26329A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1256A>C ENSP00000252444.6:p.Lys419Thr
ENST00000559340.2:c.998A>C ENSP00000453696.2:p.Lys333Thr
ENST00000560467.2:c.941-805A>C ENSP00000453513.2:n.941-805A>C
ENST00000558518.6:c.998A>C MANE Select ENSP00000454071.1:p.Lys333Thr
ENST00000252444.9:c.1252A>C
ENST00000455727.6:c.494A>C ENSP00000397829.2:p.Lys165Thr
ENST00000535915.5:c.875A>C ENSP00000440520.1:p.Lys292Thr
ENST00000545707.5:c.617A>C ENSP00000437639.1:p.Lys206Thr
ENST00000557933.5:c.998A>C ENSP00000453557.1:p.Lys333Thr
ENST00000558013.5:c.998A>C ENSP00000453346.1:p.Lys333Thr
ENST00000558518.5:c.998A>C ENSP00000454071.1:p.Lys333Thr
ENST00000560467.1:c.541-805A>C
NM_000527.4:c.998A>C , LRG_274t1:c.998A>C NP_000518.1:p.Lys333Thr
NM_001195798.1:c.998A>C NP_001182727.1:p.Lys333Thr
NM_001195799.1:c.875A>C NP_001182728.1:p.Lys292Thr
NM_001195800.1:c.494A>C NP_001182729.1:p.Lys165Thr
NM_001195803.1:c.617A>C NP_001182732.1:p.Lys206Thr
XM_011528010.1:c.998A>C XP_011526312.1:p.Lys333Thr
XM_011528011.1:c.617A>C XP_011526313.1:p.Lys206Thr
XR_244074.2:n.1148A>C
XM_011528010.2:c.998A>C XP_011526312.1:p.Lys333Thr
XR_001753685.2:n.1115A>C
XR_001753686.2:n.1115A>C
NM_000527.5:c.998A>C MANE Select NP_000518.1:p.Lys333Thr
NM_001195798.2:c.998A>C NP_001182727.1:p.Lys333Thr
NM_001195799.2:c.875A>C NP_001182728.1:p.Lys292Thr
NM_001195800.2:c.494A>C NP_001182729.1:p.Lys165Thr
NM_001195803.2:c.617A>C NP_001182732.1:p.Lys206Thr
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