Canonical Allele Identifier: CA404099605
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129635A>C , CM000681.2:g.11129635A>C GRCh38
NC_000019.9:g.11240311A>C , CM000681.1:g.11240311A>C GRCh37
NC_000019.8:g.11101311A>C NCBI36
NG_009060.1:g.45255A>C , LRG_274:g.45255A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2770A>C ENSP00000252444.6:p.Ile924Leu
ENST00000559340.2:c.*581A>C ENSP00000453696.2:n.*581A>C
ENST00000560467.2:c.2392A>C ENSP00000453513.2:p.Ile798Leu
ENST00000558518.6:c.2512A>C MANE Select ENSP00000454071.1:p.Ile838Leu
ENST00000252444.9:c.2766A>C
ENST00000455727.6:c.2008A>C ENSP00000397829.2:p.Ile670Leu
ENST00000535915.5:c.2389A>C ENSP00000440520.1:p.Ile797Leu
ENST00000545707.5:c.1978A>C ENSP00000437639.1:p.Ile660Leu
ENST00000557933.5:c.2574A>C ENSP00000453557.1:p.Thr858=
ENST00000558013.5:c.2512A>C ENSP00000453346.1:p.Ile838Leu
ENST00000558518.5:c.2512A>C ENSP00000454071.1:p.Ile838Leu
ENST00000560628.1:n.108+1981A>C
NM_000527.4:c.2512A>C , LRG_274t1:c.2512A>C NP_000518.1:p.Ile838Leu
NM_001195798.1:c.2512A>C NP_001182727.1:p.Ile838Leu
NM_001195799.1:c.2389A>C NP_001182728.1:p.Ile797Leu
NM_001195800.1:c.2008A>C NP_001182729.1:p.Ile670Leu
NM_001195803.1:c.1978A>C NP_001182732.1:p.Ile660Leu
XM_011528010.1:c.2434A>C XP_011526312.1:p.Ile812Leu
XM_011528011.1:c.2131A>C XP_011526313.1:p.Ile711Leu
XM_011528010.2:c.2434A>C XP_011526312.1:p.Ile812Leu
XR_001753685.2:n.2846A>C
XR_001753686.2:n.2489A>C
NM_000527.5:c.2512A>C MANE Select NP_000518.1:p.Ile838Leu
NM_001195798.2:c.2512A>C NP_001182727.1:p.Ile838Leu
NM_001195799.2:c.2389A>C NP_001182728.1:p.Ile797Leu
NM_001195800.2:c.2008A>C NP_001182729.1:p.Ile670Leu
NM_001195803.2:c.1978A>C NP_001182732.1:p.Ile660Leu