Canonical Allele Identifier: CA404082676
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11221369G>C (hg19) chr19:g.11110693G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110693G>C , CM000681.2:g.11110693G>C GRCh38
NC_000019.9:g.11221369G>C , CM000681.1:g.11221369G>C GRCh37
NC_000019.8:g.11082369G>C NCBI36
NG_009060.1:g.26313G>C , LRG_274:g.26313G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1240G>C ENSP00000252444.6:p.Val414Leu
ENST00000559340.2:c.982G>C ENSP00000453696.2:p.Val328Leu
ENST00000560467.2:c.941-821G>C ENSP00000453513.2:n.941-821G>C
ENST00000558518.6:c.982G>C MANE Select ENSP00000454071.1:p.Val328Leu
ENST00000252444.9:c.1236G>C
ENST00000455727.6:c.478G>C ENSP00000397829.2:p.Val160Leu
ENST00000535915.5:c.859G>C ENSP00000440520.1:p.Val287Leu
ENST00000545707.5:c.601G>C ENSP00000437639.1:p.Val201Leu
ENST00000557933.5:c.982G>C ENSP00000453557.1:p.Val328Leu
ENST00000558013.5:c.982G>C ENSP00000453346.1:p.Val328Leu
ENST00000558518.5:c.982G>C ENSP00000454071.1:p.Val328Leu
ENST00000560467.1:c.541-821G>C
NM_000527.4:c.982G>C , LRG_274t1:c.982G>C NP_000518.1:p.Val328Leu
NM_001195798.1:c.982G>C NP_001182727.1:p.Val328Leu
NM_001195799.1:c.859G>C NP_001182728.1:p.Val287Leu
NM_001195800.1:c.478G>C NP_001182729.1:p.Val160Leu
NM_001195803.1:c.601G>C NP_001182732.1:p.Val201Leu
XM_011528010.1:c.982G>C XP_011526312.1:p.Val328Leu
XM_011528011.1:c.601G>C XP_011526313.1:p.Val201Leu
XR_244074.2:n.1132G>C
XM_011528010.2:c.982G>C XP_011526312.1:p.Val328Leu
XR_001753685.2:n.1099G>C
XR_001753686.2:n.1099G>C
NM_000527.5:c.982G>C MANE Select NP_000518.1:p.Val328Leu
NM_001195798.2:c.982G>C NP_001182727.1:p.Val328Leu
NM_001195799.2:c.859G>C NP_001182728.1:p.Val287Leu
NM_001195800.2:c.478G>C NP_001182729.1:p.Val160Leu
NM_001195803.2:c.601G>C NP_001182732.1:p.Val201Leu
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