Canonical Allele Identifier: CA404099775
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129649G>A , CM000681.2:g.11129649G>A GRCh38
NC_000019.9:g.11240325G>A , CM000681.1:g.11240325G>A GRCh37
NC_000019.8:g.11101325G>A NCBI36
NG_009060.1:g.45269G>A , LRG_274:g.45269G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2784G>A ENSP00000252444.6:p.Gln928=
ENST00000559340.2:c.*595G>A ENSP00000453696.2:n.*595G>A
ENST00000560467.2:c.2406G>A ENSP00000453513.2:p.Gln802=
ENST00000558518.6:c.2526G>A MANE Select ENSP00000454071.1:p.Gln842=
ENST00000252444.9:c.2780G>A
ENST00000455727.6:c.2022G>A ENSP00000397829.2:p.Gln674=
ENST00000535915.5:c.2403G>A ENSP00000440520.1:p.Gln801=
ENST00000545707.5:c.1992G>A ENSP00000437639.1:p.Gln664=
ENST00000557933.5:c.2588G>A ENSP00000453557.1:p.Arg863Lys
ENST00000558013.5:c.2526G>A ENSP00000453346.1:p.Gln842=
ENST00000558518.5:c.2526G>A ENSP00000454071.1:p.Gln842=
ENST00000560628.1:n.108+1995G>A
NM_000527.4:c.2526G>A , LRG_274t1:c.2526G>A NP_000518.1:p.Gln842=
NM_001195798.1:c.2526G>A NP_001182727.1:p.Gln842=
NM_001195799.1:c.2403G>A NP_001182728.1:p.Gln801=
NM_001195800.1:c.2022G>A NP_001182729.1:p.Gln674=
NM_001195803.1:c.1992G>A NP_001182732.1:p.Gln664=
XM_011528010.1:c.2448G>A XP_011526312.1:p.Gln816=
XM_011528011.1:c.2145G>A XP_011526313.1:p.Gln715=
XM_011528010.2:c.2448G>A XP_011526312.1:p.Gln816=
XR_001753685.2:n.2860G>A
XR_001753686.2:n.2503G>A
NM_000527.5:c.2526G>A MANE Select NP_000518.1:p.Gln842=
NM_001195798.2:c.2526G>A NP_001182727.1:p.Gln842=
NM_001195799.2:c.2403G>A NP_001182728.1:p.Gln801=
NM_001195800.2:c.2022G>A NP_001182729.1:p.Gln674=
NM_001195803.2:c.1992G>A NP_001182732.1:p.Gln664=