Canonical Allele Identifier: CA404089824
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116963A>T , CM000681.2:g.11116963A>T GRCh38
NC_000019.9:g.11227639A>T , CM000681.1:g.11227639A>T GRCh37
NC_000019.8:g.11088639A>T NCBI36
NG_009060.1:g.32583A>T , LRG_274:g.32583A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2068A>T ENSP00000252444.6:p.Arg690Trp
ENST00000559340.2:c.1705+751A>T ENSP00000453696.2:n.1705+751A>T
ENST00000560467.2:c.1690A>T ENSP00000453513.2:p.Arg564Trp
ENST00000558518.6:c.1810A>T MANE Select ENSP00000454071.1:p.Arg604Trp
ENST00000252444.9:c.2064A>T
ENST00000455727.6:c.1306A>T ENSP00000397829.2:p.Arg436Trp
ENST00000535915.5:c.1687A>T ENSP00000440520.1:p.Arg563Trp
ENST00000545707.5:c.1429A>T ENSP00000437639.1:p.Arg477Trp
ENST00000557933.5:c.1810A>T ENSP00000453557.1:p.Arg604Trp
ENST00000558013.5:c.1810A>T ENSP00000453346.1:p.Arg604Trp
ENST00000558518.5:c.1810A>T ENSP00000454071.1:p.Arg604Trp
ENST00000559340.1:c.426+751A>T
NM_000527.4:c.1810A>T , LRG_274t1:c.1810A>T NP_000518.1:p.Arg604Trp
NM_001195798.1:c.1810A>T NP_001182727.1:p.Arg604Trp
NM_001195799.1:c.1687A>T NP_001182728.1:p.Arg563Trp
NM_001195800.1:c.1306A>T NP_001182729.1:p.Arg436Trp
NM_001195803.1:c.1429A>T NP_001182732.1:p.Arg477Trp
XM_011528010.1:c.1810A>T XP_011526312.1:p.Arg604Trp
XM_011528011.1:c.1429A>T XP_011526313.1:p.Arg477Trp
XR_244074.2:n.1855+751A>T
XM_011528010.2:c.1810A>T XP_011526312.1:p.Arg604Trp
XR_001753685.2:n.1927A>T
XR_001753686.2:n.1822+751A>T
NM_000527.5:c.1810A>T MANE Select NP_000518.1:p.Arg604Trp
NM_001195798.2:c.1810A>T NP_001182727.1:p.Arg604Trp
NM_001195799.2:c.1687A>T NP_001182728.1:p.Arg563Trp
NM_001195800.2:c.1306A>T NP_001182729.1:p.Arg436Trp
NM_001195803.2:c.1429A>T NP_001182732.1:p.Arg477Trp