Canonical Allele Identifier: CA404098596
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129545C>A , CM000681.2:g.11129545C>A GRCh38
NC_000019.9:g.11240221C>A , CM000681.1:g.11240221C>A GRCh37
NC_000019.8:g.11101221C>A NCBI36
NG_009060.1:g.45165C>A , LRG_274:g.45165C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2680C>A ENSP00000252444.6:p.Leu894Ile
ENST00000559340.2:c.*491C>A ENSP00000453696.2:n.*491C>A
ENST00000560467.2:c.2302C>A ENSP00000453513.2:p.Leu768Ile
ENST00000558518.6:c.2422C>A MANE Select ENSP00000454071.1:p.Leu808Ile
ENST00000252444.9:c.2676C>A
ENST00000455727.6:c.1918C>A ENSP00000397829.2:p.Leu640Ile
ENST00000535915.5:c.2299C>A ENSP00000440520.1:p.Leu767Ile
ENST00000545707.5:c.1888C>A ENSP00000437639.1:p.Leu630Ile
ENST00000557933.5:c.2484C>A ENSP00000453557.1:p.Ser828=
ENST00000558013.5:c.2422C>A ENSP00000453346.1:p.Leu808Ile
ENST00000558518.5:c.2422C>A ENSP00000454071.1:p.Leu808Ile
ENST00000560628.1:n.108+1891C>A
NM_000527.4:c.2422C>A , LRG_274t1:c.2422C>A NP_000518.1:p.Leu808Ile
NM_001195798.1:c.2422C>A NP_001182727.1:p.Leu808Ile
NM_001195799.1:c.2299C>A NP_001182728.1:p.Leu767Ile
NM_001195800.1:c.1918C>A NP_001182729.1:p.Leu640Ile
NM_001195803.1:c.1888C>A NP_001182732.1:p.Leu630Ile
XM_011528010.1:c.2344C>A XP_011526312.1:p.Leu782Ile
XM_011528011.1:c.2041C>A XP_011526313.1:p.Leu681Ile
XR_244074.2:n.2432C>A
XM_011528010.2:c.2344C>A XP_011526312.1:p.Leu782Ile
XR_001753685.2:n.2756C>A
XR_001753686.2:n.2399C>A
NM_000527.5:c.2422C>A MANE Select NP_000518.1:p.Leu808Ile
NM_001195798.2:c.2422C>A NP_001182727.1:p.Leu808Ile
NM_001195799.2:c.2299C>A NP_001182728.1:p.Leu767Ile
NM_001195800.2:c.1918C>A NP_001182729.1:p.Leu640Ile
NM_001195803.2:c.1888C>A NP_001182732.1:p.Leu630Ile