Canonical Allele Identifier: CA2322780282
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129567T= , CM000681.2:g.11129567T= GRCh38
NC_000019.9:g.11240243T= , CM000681.1:g.11240243T= GRCh37
NC_000019.8:g.11101243T= NCBI36
NG_009060.1:g.45187T= , LRG_274:g.45187T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2702T= ENSP00000252444.6:p.Leu901=
ENST00000559340.2:c.*513T= ENSP00000453696.2:n.*513T=
ENST00000560467.2:c.2324T= ENSP00000453513.2:p.Leu775=
ENST00000558518.6:c.2444T= MANE Select ENSP00000454071.1:p.Leu815=
ENST00000252444.9:c.2698T=
ENST00000455727.6:c.1940T= ENSP00000397829.2:p.Leu647=
ENST00000535915.5:c.2321T= ENSP00000440520.1:p.Leu774=
ENST00000545707.5:c.1910T= ENSP00000437639.1:p.Leu637=
ENST00000557933.5:c.2506T= ENSP00000453557.1:p.Leu836=
ENST00000558013.5:c.2444T= ENSP00000453346.1:p.Leu815=
ENST00000558518.5:c.2444T= ENSP00000454071.1:p.Leu815=
ENST00000560628.1:n.108+1913T=
NM_000527.4:c.2444T= , LRG_274t1:c.2444T= NP_000518.1:p.Leu815=
NM_001195798.1:c.2444T= NP_001182727.1:p.Leu815=
NM_001195799.1:c.2321T= NP_001182728.1:p.Leu774=
NM_001195800.1:c.1940T= NP_001182729.1:p.Leu647=
NM_001195803.1:c.1910T= NP_001182732.1:p.Leu637=
XM_011528010.1:c.2366T= XP_011526312.1:p.Leu789=
XM_011528011.1:c.2063T= XP_011526313.1:p.Leu688=
XR_244074.2:n.2454T=
XM_011528010.2:c.2366T= XP_011526312.1:p.Leu789=
XR_001753685.2:n.2778T=
XR_001753686.2:n.2421T=
NM_000527.5:c.2444T= MANE Select NP_000518.1:p.Leu815=
NM_001195798.2:c.2444T= NP_001182727.1:p.Leu815=
NM_001195799.2:c.2321T= NP_001182728.1:p.Leu774=
NM_001195800.2:c.1940T= NP_001182729.1:p.Leu647=
NM_001195803.2:c.1910T= NP_001182732.1:p.Leu637=