Canonical Allele Identifier: CA404095744
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123326G>C , CM000681.2:g.11123326G>C GRCh38
NC_000019.9:g.11234002G>C , CM000681.1:g.11234002G>C GRCh37
NC_000019.8:g.11095002G>C NCBI36
NG_009060.1:g.38946G>C , LRG_274:g.38946G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2551G>C ENSP00000252444.6:p.Val851Leu
ENST00000559340.2:c.*362G>C ENSP00000453696.2:n.*362G>C
ENST00000560467.2:c.2173G>C ENSP00000453513.2:p.Val725Leu
ENST00000558518.6:c.2293G>C MANE Select ENSP00000454071.1:p.Val765Leu
ENST00000252444.9:c.2547G>C
ENST00000455727.6:c.1789G>C ENSP00000397829.2:p.Val597Leu
ENST00000535915.5:c.2170G>C ENSP00000440520.1:p.Val724Leu
ENST00000545707.5:c.1759G>C ENSP00000437639.1:p.Val587Leu
ENST00000557933.5:c.2293G>C ENSP00000453557.1:p.Val765Leu
ENST00000558013.5:c.2293G>C ENSP00000453346.1:p.Val765Leu
ENST00000558518.5:c.2293G>C ENSP00000454071.1:p.Val765Leu
NM_000527.4:c.2293G>C , LRG_274t1:c.2293G>C NP_000518.1:p.Val765Leu
NM_001195798.1:c.2293G>C NP_001182727.1:p.Val765Leu
NM_001195799.1:c.2170G>C NP_001182728.1:p.Val724Leu
NM_001195800.1:c.1789G>C NP_001182729.1:p.Val597Leu
NM_001195803.1:c.1759G>C NP_001182732.1:p.Val587Leu
XM_011528010.1:c.2293G>C XP_011526312.1:p.Val765Leu
XM_011528011.1:c.1912G>C XP_011526313.1:p.Val638Leu
XR_244074.2:n.2303G>C
XM_011528010.2:c.2293G>C XP_011526312.1:p.Val765Leu
XR_001753685.2:n.2627G>C
XR_001753686.2:n.2270G>C
NM_000527.5:c.2293G>C MANE Select NP_000518.1:p.Val765Leu
NM_001195798.2:c.2293G>C NP_001182727.1:p.Val765Leu
NM_001195799.2:c.2170G>C NP_001182728.1:p.Val724Leu
NM_001195800.2:c.1789G>C NP_001182729.1:p.Val597Leu
NM_001195803.2:c.1759G>C NP_001182732.1:p.Val587Leu