Canonical Allele Identifier: CA404099053
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129586C>A , CM000681.2:g.11129586C>A GRCh38
NC_000019.9:g.11240262C>A , CM000681.1:g.11240262C>A GRCh37
NC_000019.8:g.11101262C>A NCBI36
NG_009060.1:g.45206C>A , LRG_274:g.45206C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2721C>A ENSP00000252444.6:p.Ile907=
ENST00000559340.2:c.*532C>A ENSP00000453696.2:n.*532C>A
ENST00000560467.2:c.2343C>A ENSP00000453513.2:p.Ile781=
ENST00000558518.6:c.2463C>A MANE Select ENSP00000454071.1:p.Ile821=
ENST00000252444.9:c.2717C>A
ENST00000455727.6:c.1959C>A ENSP00000397829.2:p.Ile653=
ENST00000535915.5:c.2340C>A ENSP00000440520.1:p.Ile780=
ENST00000545707.5:c.1929C>A ENSP00000437639.1:p.Ile643=
ENST00000557933.5:c.2525C>A ENSP00000453557.1:p.Ser842Ter
ENST00000558013.5:c.2463C>A ENSP00000453346.1:p.Ile821=
ENST00000558518.5:c.2463C>A ENSP00000454071.1:p.Ile821=
ENST00000560628.1:n.108+1932C>A
NM_000527.4:c.2463C>A , LRG_274t1:c.2463C>A NP_000518.1:p.Ile821=
NM_001195798.1:c.2463C>A NP_001182727.1:p.Ile821=
NM_001195799.1:c.2340C>A NP_001182728.1:p.Ile780=
NM_001195800.1:c.1959C>A NP_001182729.1:p.Ile653=
NM_001195803.1:c.1929C>A NP_001182732.1:p.Ile643=
XM_011528010.1:c.2385C>A XP_011526312.1:p.Ile795=
XM_011528011.1:c.2082C>A XP_011526313.1:p.Ile694=
XM_011528010.2:c.2385C>A XP_011526312.1:p.Ile795=
XR_001753685.2:n.2797C>A
XR_001753686.2:n.2440C>A
NM_000527.5:c.2463C>A MANE Select NP_000518.1:p.Ile821=
NM_001195798.2:c.2463C>A NP_001182727.1:p.Ile821=
NM_001195799.2:c.2340C>A NP_001182728.1:p.Ile780=
NM_001195800.2:c.1959C>A NP_001182729.1:p.Ile653=
NM_001195803.2:c.1929C>A NP_001182732.1:p.Ile643=