Canonical Allele Identifier: CA2322780274
Gene: LDLR HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2685A= ENSP00000252444.6:p.Leu895=
ENST00000559340.2:c.*496A= ENSP00000453696.2:n.*496A=
ENST00000560467.2:c.2307A= ENSP00000453513.2:p.Leu769=
ENST00000558518.6:c.2427A= MANE Select ENSP00000454071.1:p.Leu809=
ENST00000252444.9:c.2681A=
ENST00000455727.6:c.1923A= ENSP00000397829.2:p.Leu641=
ENST00000535915.5:c.2304A= ENSP00000440520.1:p.Leu768=
ENST00000545707.5:c.1893A= ENSP00000437639.1:p.Leu631=
ENST00000557933.5:c.2489A= ENSP00000453557.1:p.Tyr830=
ENST00000558013.5:c.2427A= ENSP00000453346.1:p.Leu809=
ENST00000558518.5:c.2427A= ENSP00000454071.1:p.Leu809=
ENST00000560628.1:n.108+1896A=
NM_000527.4:c.2427A= , LRG_274t1:c.2427A= NP_000518.1:p.Leu809=
NM_001195798.1:c.2427A= NP_001182727.1:p.Leu809=
NM_001195799.1:c.2304A= NP_001182728.1:p.Leu768=
NM_001195800.1:c.1923A= NP_001182729.1:p.Leu641=
NM_001195803.1:c.1893A= NP_001182732.1:p.Leu631=
XM_011528010.1:c.2349A= XP_011526312.1:p.Leu783=
XM_011528011.1:c.2046A= XP_011526313.1:p.Leu682=
XR_244074.2:n.2437A=
XM_011528010.2:c.2349A= XP_011526312.1:p.Leu783=
XR_001753685.2:n.2761A=
XR_001753686.2:n.2404A=
NM_000527.5:c.2427A= MANE Select NP_000518.1:p.Leu809=
NM_001195798.2:c.2427A= NP_001182727.1:p.Leu809=
NM_001195799.2:c.2304A= NP_001182728.1:p.Leu768=
NM_001195800.2:c.1923A= NP_001182729.1:p.Leu641=
NM_001195803.2:c.1893A= NP_001182732.1:p.Leu631=