Canonical Allele Identifier: CA404096797
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128050G>A , CM000681.2:g.11128050G>A GRCh38
NC_000019.9:g.11238726G>A , CM000681.1:g.11238726G>A GRCh37
NC_000019.8:g.11099726G>A NCBI36
NG_009060.1:g.43670G>A , LRG_274:g.43670G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2612G>A ENSP00000252444.6:p.Ser871Asn
ENST00000559340.2:c.*423G>A ENSP00000453696.2:n.*423G>A
ENST00000560467.2:c.2234G>A ENSP00000453513.2:p.Ser745Asn
ENST00000558518.6:c.2354G>A MANE Select ENSP00000454071.1:p.Ser785Asn
ENST00000252444.9:c.2608G>A
ENST00000455727.6:c.1850G>A ENSP00000397829.2:p.Ser617Asn
ENST00000535915.5:c.2231G>A ENSP00000440520.1:p.Ser744Asn
ENST00000545707.5:c.1820G>A ENSP00000437639.1:p.Ser607Asn
ENST00000557933.5:c.2354G>A ENSP00000453557.1:p.Ser785Asn
ENST00000558013.5:c.2354G>A ENSP00000453346.1:p.Ser785Asn
ENST00000558518.5:c.2354G>A ENSP00000454071.1:p.Ser785Asn
ENST00000560628.1:n.108+396G>A
NM_000527.4:c.2354G>A , LRG_274t1:c.2354G>A NP_000518.1:p.Ser785Asn
NM_001195798.1:c.2354G>A NP_001182727.1:p.Ser785Asn
NM_001195799.1:c.2231G>A NP_001182728.1:p.Ser744Asn
NM_001195800.1:c.1850G>A NP_001182729.1:p.Ser617Asn
NM_001195803.1:c.1820G>A NP_001182732.1:p.Ser607Asn
XM_011528010.1:c.2312-1463G>A XP_011526312.1:n.2312-1463G>A
XM_011528011.1:c.1973G>A XP_011526313.1:p.Ser658Asn
XR_244074.2:n.2364G>A
XM_011528010.2:c.2312-1463G>A XP_011526312.1:n.2312-1463G>A
XR_001753685.2:n.2688G>A
XR_001753686.2:n.2331G>A
NM_000527.5:c.2354G>A MANE Select NP_000518.1:p.Ser785Asn
NM_001195798.2:c.2354G>A NP_001182727.1:p.Ser785Asn
NM_001195799.2:c.2231G>A NP_001182728.1:p.Ser744Asn
NM_001195800.2:c.1850G>A NP_001182729.1:p.Ser617Asn
NM_001195803.2:c.1820G>A NP_001182732.1:p.Ser607Asn