Canonical Allele Identifier: CA404098935
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129576T>C , CM000681.2:g.11129576T>C GRCh38
NC_000019.9:g.11240252T>C , CM000681.1:g.11240252T>C GRCh37
NC_000019.8:g.11101252T>C NCBI36
NG_009060.1:g.45196T>C , LRG_274:g.45196T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2711T>C ENSP00000252444.6:p.Ile904Thr
ENST00000559340.2:c.*522T>C ENSP00000453696.2:n.*522T>C
ENST00000560467.2:c.2333T>C ENSP00000453513.2:p.Ile778Thr
ENST00000558518.6:c.2453T>C MANE Select ENSP00000454071.1:p.Ile818Thr
ENST00000252444.9:c.2707T>C
ENST00000455727.6:c.1949T>C ENSP00000397829.2:p.Ile650Thr
ENST00000535915.5:c.2330T>C ENSP00000440520.1:p.Ile777Thr
ENST00000545707.5:c.1919T>C ENSP00000437639.1:p.Ile640Thr
ENST00000557933.5:c.2515T>C ENSP00000453557.1:p.Ser839Pro
ENST00000558013.5:c.2453T>C ENSP00000453346.1:p.Ile818Thr
ENST00000558518.5:c.2453T>C ENSP00000454071.1:p.Ile818Thr
ENST00000560628.1:n.108+1922T>C
NM_000527.4:c.2453T>C , LRG_274t1:c.2453T>C NP_000518.1:p.Ile818Thr
NM_001195798.1:c.2453T>C NP_001182727.1:p.Ile818Thr
NM_001195799.1:c.2330T>C NP_001182728.1:p.Ile777Thr
NM_001195800.1:c.1949T>C NP_001182729.1:p.Ile650Thr
NM_001195803.1:c.1919T>C NP_001182732.1:p.Ile640Thr
XM_011528010.1:c.2375T>C XP_011526312.1:p.Ile792Thr
XM_011528011.1:c.2072T>C XP_011526313.1:p.Ile691Thr
XM_011528010.2:c.2375T>C XP_011526312.1:p.Ile792Thr
XR_001753685.2:n.2787T>C
XR_001753686.2:n.2430T>C
NM_000527.5:c.2453T>C MANE Select NP_000518.1:p.Ile818Thr
NM_001195798.2:c.2453T>C NP_001182727.1:p.Ile818Thr
NM_001195799.2:c.2330T>C NP_001182728.1:p.Ile777Thr
NM_001195800.2:c.1949T>C NP_001182729.1:p.Ile650Thr
NM_001195803.2:c.1919T>C NP_001182732.1:p.Ile640Thr