Canonical Allele Identifier: CA404099785
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129650G>T , CM000681.2:g.11129650G>T GRCh38
NC_000019.9:g.11240326G>T , CM000681.1:g.11240326G>T GRCh37
NC_000019.8:g.11101326G>T NCBI36
NG_009060.1:g.45270G>T , LRG_274:g.45270G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2785G>T ENSP00000252444.6:p.Asp929Tyr
ENST00000559340.2:c.*596G>T ENSP00000453696.2:n.*596G>T
ENST00000560467.2:c.2407G>T ENSP00000453513.2:p.Asp803Tyr
ENST00000558518.6:c.2527G>T MANE Select ENSP00000454071.1:p.Asp843Tyr
ENST00000252444.9:c.2781G>T
ENST00000455727.6:c.2023G>T ENSP00000397829.2:p.Asp675Tyr
ENST00000535915.5:c.2404G>T ENSP00000440520.1:p.Asp802Tyr
ENST00000545707.5:c.1993G>T ENSP00000437639.1:p.Asp665Tyr
ENST00000557933.5:c.2589G>T ENSP00000453557.1:p.Arg863Ser
ENST00000558013.5:c.2527G>T ENSP00000453346.1:p.Asp843Tyr
ENST00000558518.5:c.2527G>T ENSP00000454071.1:p.Asp843Tyr
ENST00000560628.1:n.108+1996G>T
NM_000527.4:c.2527G>T , LRG_274t1:c.2527G>T NP_000518.1:p.Asp843Tyr
NM_001195798.1:c.2527G>T NP_001182727.1:p.Asp843Tyr
NM_001195799.1:c.2404G>T NP_001182728.1:p.Asp802Tyr
NM_001195800.1:c.2023G>T NP_001182729.1:p.Asp675Tyr
NM_001195803.1:c.1993G>T NP_001182732.1:p.Asp665Tyr
XM_011528010.1:c.2449G>T XP_011526312.1:p.Asp817Tyr
XM_011528011.1:c.2146G>T XP_011526313.1:p.Asp716Tyr
XM_011528010.2:c.2449G>T XP_011526312.1:p.Asp817Tyr
XR_001753685.2:n.2861G>T
XR_001753686.2:n.2504G>T
NM_000527.5:c.2527G>T MANE Select NP_000518.1:p.Asp843Tyr
NM_001195798.2:c.2527G>T NP_001182727.1:p.Asp843Tyr
NM_001195799.2:c.2404G>T NP_001182728.1:p.Asp802Tyr
NM_001195800.2:c.2023G>T NP_001182729.1:p.Asp675Tyr
NM_001195803.2:c.1993G>T NP_001182732.1:p.Asp665Tyr