Canonical Allele Identifier: CA2322768157
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106594C= , CM000681.2:g.11106594C= GRCh38
NC_000019.9:g.11217270C= , CM000681.1:g.11217270C= GRCh37
NC_000019.8:g.11078270C= NCBI36
NG_009060.1:g.22214C= , LRG_274:g.22214C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.982C= ENSP00000252444.6:p.Gln328=
ENST00000559340.2:c.724C= ENSP00000453696.2:p.Gln242=
ENST00000560467.2:c.724C= ENSP00000453513.2:p.Gln242=
ENST00000558518.6:c.724C= MANE Select ENSP00000454071.1:p.Gln242=
ENST00000252444.9:c.978C=
ENST00000455727.6:c.314-798C= ENSP00000397829.2:n.314-798C=
ENST00000535915.5:c.601C= ENSP00000440520.1:p.Gln201=
ENST00000545707.5:c.343C= ENSP00000437639.1:p.Gln115=
ENST00000557933.5:c.724C= ENSP00000453557.1:p.Gln242=
ENST00000558013.5:c.724C= ENSP00000453346.1:p.Gln242=
ENST00000558518.5:c.724C= ENSP00000454071.1:p.Gln242=
ENST00000558528.1:n.239C=
ENST00000560467.1:c.324C=
NM_000527.4:c.724C= , LRG_274t1:c.724C= NP_000518.1:p.Gln242=
NM_001195798.1:c.724C= NP_001182727.1:p.Gln242=
NM_001195799.1:c.601C= NP_001182728.1:p.Gln201=
NM_001195800.1:c.314-798C= NP_001182729.1:n.314-798C=
NM_001195803.1:c.343C= NP_001182732.1:p.Gln115=
XM_011528010.1:c.724C= XP_011526312.1:p.Gln242=
XM_011528011.1:c.343C= XP_011526313.1:p.Gln115=
XR_244074.2:n.874C=
XM_011528010.2:c.724C= XP_011526312.1:p.Gln242=
XR_001753685.2:n.841C=
XR_001753686.2:n.841C=
NM_000527.5:c.724C= MANE Select NP_000518.1:p.Gln242=
NM_001195798.2:c.724C= NP_001182727.1:p.Gln242=
NM_001195799.2:c.601C= NP_001182728.1:p.Gln201=
NM_001195800.2:c.314-798C= NP_001182729.1:n.314-798C=
NM_001195803.2:c.343C= NP_001182732.1:p.Gln115=