Canonical Allele Identifier: CA404098727
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129558A>C , CM000681.2:g.11129558A>C GRCh38
NC_000019.9:g.11240234A>C , CM000681.1:g.11240234A>C GRCh37
NC_000019.8:g.11101234A>C NCBI36
NG_009060.1:g.45178A>C , LRG_274:g.45178A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2693A>C ENSP00000252444.6:p.Asn898Thr
ENST00000559340.2:c.*504A>C ENSP00000453696.2:n.*504A>C
ENST00000560467.2:c.2315A>C ENSP00000453513.2:p.Asn772Thr
ENST00000558518.6:c.2435A>C MANE Select ENSP00000454071.1:p.Asn812Thr
ENST00000252444.9:c.2689A>C
ENST00000455727.6:c.1931A>C ENSP00000397829.2:p.Asn644Thr
ENST00000535915.5:c.2312A>C ENSP00000440520.1:p.Asn771Thr
ENST00000545707.5:c.1901A>C ENSP00000437639.1:p.Asn634Thr
ENST00000557933.5:c.2497A>C ENSP00000453557.1:p.Thr833Pro
ENST00000558013.5:c.2435A>C ENSP00000453346.1:p.Asn812Thr
ENST00000558518.5:c.2435A>C ENSP00000454071.1:p.Asn812Thr
ENST00000560628.1:n.108+1904A>C
NM_000527.4:c.2435A>C , LRG_274t1:c.2435A>C NP_000518.1:p.Asn812Thr
NM_001195798.1:c.2435A>C NP_001182727.1:p.Asn812Thr
NM_001195799.1:c.2312A>C NP_001182728.1:p.Asn771Thr
NM_001195800.1:c.1931A>C NP_001182729.1:p.Asn644Thr
NM_001195803.1:c.1901A>C NP_001182732.1:p.Asn634Thr
XM_011528010.1:c.2357A>C XP_011526312.1:p.Asn786Thr
XM_011528011.1:c.2054A>C XP_011526313.1:p.Asn685Thr
XR_244074.2:n.2445A>C
XM_011528010.2:c.2357A>C XP_011526312.1:p.Asn786Thr
XR_001753685.2:n.2769A>C
XR_001753686.2:n.2412A>C
NM_000527.5:c.2435A>C MANE Select NP_000518.1:p.Asn812Thr
NM_001195798.2:c.2435A>C NP_001182727.1:p.Asn812Thr
NM_001195799.2:c.2312A>C NP_001182728.1:p.Asn771Thr
NM_001195800.2:c.1931A>C NP_001182729.1:p.Asn644Thr
NM_001195803.2:c.1901A>C NP_001182732.1:p.Asn634Thr