Canonical Allele Identifier: CA404098647
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129550A>C , CM000681.2:g.11129550A>C GRCh38
NC_000019.9:g.11240226A>C , CM000681.1:g.11240226A>C GRCh37
NC_000019.8:g.11101226A>C NCBI36
NG_009060.1:g.45170A>C , LRG_274:g.45170A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2685A>C ENSP00000252444.6:p.Leu895=
ENST00000559340.2:c.*496A>C ENSP00000453696.2:n.*496A>C
ENST00000560467.2:c.2307A>C ENSP00000453513.2:p.Leu769=
ENST00000558518.6:c.2427A>C MANE Select ENSP00000454071.1:p.Leu809=
ENST00000252444.9:c.2681A>C
ENST00000455727.6:c.1923A>C ENSP00000397829.2:p.Leu641=
ENST00000535915.5:c.2304A>C ENSP00000440520.1:p.Leu768=
ENST00000545707.5:c.1893A>C ENSP00000437639.1:p.Leu631=
ENST00000557933.5:c.2489A>C ENSP00000453557.1:p.Tyr830Ser
ENST00000558013.5:c.2427A>C ENSP00000453346.1:p.Leu809=
ENST00000558518.5:c.2427A>C ENSP00000454071.1:p.Leu809=
ENST00000560628.1:n.108+1896A>C
NM_000527.4:c.2427A>C , LRG_274t1:c.2427A>C NP_000518.1:p.Leu809=
NM_001195798.1:c.2427A>C NP_001182727.1:p.Leu809=
NM_001195799.1:c.2304A>C NP_001182728.1:p.Leu768=
NM_001195800.1:c.1923A>C NP_001182729.1:p.Leu641=
NM_001195803.1:c.1893A>C NP_001182732.1:p.Leu631=
XM_011528010.1:c.2349A>C XP_011526312.1:p.Leu783=
XM_011528011.1:c.2046A>C XP_011526313.1:p.Leu682=
XR_244074.2:n.2437A>C
XM_011528010.2:c.2349A>C XP_011526312.1:p.Leu783=
XR_001753685.2:n.2761A>C
XR_001753686.2:n.2404A>C
NM_000527.5:c.2427A>C MANE Select NP_000518.1:p.Leu809=
NM_001195798.2:c.2427A>C NP_001182727.1:p.Leu809=
NM_001195799.2:c.2304A>C NP_001182728.1:p.Leu768=
NM_001195800.2:c.1923A>C NP_001182729.1:p.Leu641=
NM_001195803.2:c.1893A>C NP_001182732.1:p.Leu631=