Canonical Allele Identifier: CA404095218
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123269G>C , CM000681.2:g.11123269G>C GRCh38
NC_000019.9:g.11233945G>C , CM000681.1:g.11233945G>C GRCh37
NC_000019.8:g.11094945G>C NCBI36
NG_009060.1:g.38889G>C , LRG_274:g.38889G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2494G>C ENSP00000252444.6:p.Val832Leu
ENST00000559340.2:c.*305G>C ENSP00000453696.2:n.*305G>C
ENST00000560467.2:c.2116G>C ENSP00000453513.2:p.Val706Leu
ENST00000558518.6:c.2236G>C MANE Select ENSP00000454071.1:p.Val746Leu
ENST00000252444.9:c.2490G>C
ENST00000455727.6:c.1732G>C ENSP00000397829.2:p.Val578Leu
ENST00000535915.5:c.2113G>C ENSP00000440520.1:p.Val705Leu
ENST00000545707.5:c.1702G>C ENSP00000437639.1:p.Val568Leu
ENST00000557933.5:c.2236G>C ENSP00000453557.1:p.Val746Leu
ENST00000558013.5:c.2236G>C ENSP00000453346.1:p.Val746Leu
ENST00000558518.5:c.2236G>C ENSP00000454071.1:p.Val746Leu
NM_000527.4:c.2236G>C , LRG_274t1:c.2236G>C NP_000518.1:p.Val746Leu
NM_001195798.1:c.2236G>C NP_001182727.1:p.Val746Leu
NM_001195799.1:c.2113G>C NP_001182728.1:p.Val705Leu
NM_001195800.1:c.1732G>C NP_001182729.1:p.Val578Leu
NM_001195803.1:c.1702G>C NP_001182732.1:p.Val568Leu
XM_011528010.1:c.2236G>C XP_011526312.1:p.Val746Leu
XM_011528011.1:c.1855G>C XP_011526313.1:p.Val619Leu
XR_244074.2:n.2246G>C
XM_011528010.2:c.2236G>C XP_011526312.1:p.Val746Leu
XR_001753685.2:n.2570G>C
XR_001753686.2:n.2213G>C
NM_000527.5:c.2236G>C MANE Select NP_000518.1:p.Val746Leu
NM_001195798.2:c.2236G>C NP_001182727.1:p.Val746Leu
NM_001195799.2:c.2113G>C NP_001182728.1:p.Val705Leu
NM_001195800.2:c.1732G>C NP_001182729.1:p.Val578Leu
NM_001195803.2:c.1702G>C NP_001182732.1:p.Val568Leu