Canonical Allele Identifier: CA2322780296
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129599C= , CM000681.2:g.11129599C= GRCh38
NC_000019.9:g.11240275C= , CM000681.1:g.11240275C= GRCh37
NC_000019.8:g.11101275C= NCBI36
NG_009060.1:g.45219C= , LRG_274:g.45219C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2734C= ENSP00000252444.6:p.Pro912=
ENST00000559340.2:c.*545C= ENSP00000453696.2:n.*545C=
ENST00000560467.2:c.2356C= ENSP00000453513.2:p.Pro786=
ENST00000558518.6:c.2476C= MANE Select ENSP00000454071.1:p.Pro826=
ENST00000252444.9:c.2730C=
ENST00000455727.6:c.1972C= ENSP00000397829.2:p.Pro658=
ENST00000535915.5:c.2353C= ENSP00000440520.1:p.Pro785=
ENST00000545707.5:c.1942C= ENSP00000437639.1:p.Pro648=
ENST00000557933.5:c.2538C= ENSP00000453557.1:p.Thr846=
ENST00000558013.5:c.2476C= ENSP00000453346.1:p.Pro826=
ENST00000558518.5:c.2476C= ENSP00000454071.1:p.Pro826=
ENST00000560628.1:n.108+1945C=
NM_000527.4:c.2476C= , LRG_274t1:c.2476C= NP_000518.1:p.Pro826=
NM_001195798.1:c.2476C= NP_001182727.1:p.Pro826=
NM_001195799.1:c.2353C= NP_001182728.1:p.Pro785=
NM_001195800.1:c.1972C= NP_001182729.1:p.Pro658=
NM_001195803.1:c.1942C= NP_001182732.1:p.Pro648=
XM_011528010.1:c.2398C= XP_011526312.1:p.Pro800=
XM_011528011.1:c.2095C= XP_011526313.1:p.Pro699=
XM_011528010.2:c.2398C= XP_011526312.1:p.Pro800=
XR_001753685.2:n.2810C=
XR_001753686.2:n.2453C=
NM_000527.5:c.2476C= MANE Select NP_000518.1:p.Pro826=
NM_001195798.2:c.2476C= NP_001182727.1:p.Pro826=
NM_001195799.2:c.2353C= NP_001182728.1:p.Pro785=
NM_001195800.2:c.1972C= NP_001182729.1:p.Pro658=
NM_001195803.2:c.1942C= NP_001182732.1:p.Pro648=