Canonical Allele Identifier: CA404100003
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129670G>T , CM000681.2:g.11129670G>T GRCh38
NC_000019.9:g.11240346G>T , CM000681.1:g.11240346G>T GRCh37
NC_000019.8:g.11101346G>T NCBI36
NG_009060.1:g.45290G>T , LRG_274:g.45290G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2805G>T ENSP00000252444.6:p.Ser935=
ENST00000559340.2:c.*616G>T ENSP00000453696.2:n.*616G>T
ENST00000560467.2:c.2427G>T ENSP00000453513.2:p.Ser809=
ENST00000558518.6:c.2547G>T MANE Select ENSP00000454071.1:p.Ser849=
ENST00000252444.9:c.2801G>T
ENST00000455727.6:c.2043G>T ENSP00000397829.2:p.Ser681=
ENST00000535915.5:c.2424G>T ENSP00000440520.1:p.Ser808=
ENST00000545707.5:c.2013G>T ENSP00000437639.1:p.Ser671=
ENST00000557933.5:c.2609G>T ENSP00000453557.1:p.Arg870Leu
ENST00000558013.5:c.2547G>T ENSP00000453346.1:p.Ser849=
ENST00000558518.5:c.2547G>T ENSP00000454071.1:p.Ser849=
ENST00000560628.1:n.108+2016G>T
NM_000527.4:c.2547G>T , LRG_274t1:c.2547G>T NP_000518.1:p.Ser849=
NM_001195798.1:c.2547G>T NP_001182727.1:p.Ser849=
NM_001195799.1:c.2424G>T NP_001182728.1:p.Ser808=
NM_001195800.1:c.2043G>T NP_001182729.1:p.Ser681=
NM_001195803.1:c.2013G>T NP_001182732.1:p.Ser671=
XM_011528010.1:c.2469G>T XP_011526312.1:p.Ser823=
XM_011528011.1:c.2166G>T XP_011526313.1:p.Ser722=
XM_011528010.2:c.2469G>T XP_011526312.1:p.Ser823=
XR_001753685.2:n.2881G>T
XR_001753686.2:n.2524G>T
NM_000527.5:c.2547G>T MANE Select NP_000518.1:p.Ser849=
NM_001195798.2:c.2547G>T NP_001182727.1:p.Ser849=
NM_001195799.2:c.2424G>T NP_001182728.1:p.Ser808=
NM_001195800.2:c.2043G>T NP_001182729.1:p.Ser681=
NM_001195803.2:c.2013G>T NP_001182732.1:p.Ser671=