Canonical Allele Identifier: CA404098979
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129579A>T , CM000681.2:g.11129579A>T GRCh38
NC_000019.9:g.11240255A>T , CM000681.1:g.11240255A>T GRCh37
NC_000019.8:g.11101255A>T NCBI36
NG_009060.1:g.45199A>T , LRG_274:g.45199A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2714A>T ENSP00000252444.6:p.Asn905Ile
ENST00000559340.2:c.*525A>T ENSP00000453696.2:n.*525A>T
ENST00000560467.2:c.2336A>T ENSP00000453513.2:p.Asn779Ile
ENST00000558518.6:c.2456A>T MANE Select ENSP00000454071.1:p.Asn819Ile
ENST00000252444.9:c.2710A>T
ENST00000455727.6:c.1952A>T ENSP00000397829.2:p.Asn651Ile
ENST00000535915.5:c.2333A>T ENSP00000440520.1:p.Asn778Ile
ENST00000545707.5:c.1922A>T ENSP00000437639.1:p.Asn641Ile
ENST00000557933.5:c.2518A>T ENSP00000453557.1:p.Thr840Ser
ENST00000558013.5:c.2456A>T ENSP00000453346.1:p.Asn819Ile
ENST00000558518.5:c.2456A>T ENSP00000454071.1:p.Asn819Ile
ENST00000560628.1:n.108+1925A>T
NM_000527.4:c.2456A>T , LRG_274t1:c.2456A>T NP_000518.1:p.Asn819Ile
NM_001195798.1:c.2456A>T NP_001182727.1:p.Asn819Ile
NM_001195799.1:c.2333A>T NP_001182728.1:p.Asn778Ile
NM_001195800.1:c.1952A>T NP_001182729.1:p.Asn651Ile
NM_001195803.1:c.1922A>T NP_001182732.1:p.Asn641Ile
XM_011528010.1:c.2378A>T XP_011526312.1:p.Asn793Ile
XM_011528011.1:c.2075A>T XP_011526313.1:p.Asn692Ile
XM_011528010.2:c.2378A>T XP_011526312.1:p.Asn793Ile
XR_001753685.2:n.2790A>T
XR_001753686.2:n.2433A>T
NM_000527.5:c.2456A>T MANE Select NP_000518.1:p.Asn819Ile
NM_001195798.2:c.2456A>T NP_001182727.1:p.Asn819Ile
NM_001195799.2:c.2333A>T NP_001182728.1:p.Asn778Ile
NM_001195800.2:c.1952A>T NP_001182729.1:p.Asn651Ile
NM_001195803.2:c.1922A>T NP_001182732.1:p.Asn641Ile