Canonical Allele Identifier: CA404093594
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120418A>C , CM000681.2:g.11120418A>C GRCh38
NC_000019.9:g.11231094A>C , CM000681.1:g.11231094A>C GRCh37
NC_000019.8:g.11092094A>C NCBI36
NG_009060.1:g.36038A>C , LRG_274:g.36038A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2294A>C ENSP00000252444.6:p.Tyr765Ser
ENST00000559340.2:c.*105A>C ENSP00000453696.2:n.*105A>C
ENST00000560467.2:c.1916A>C ENSP00000453513.2:p.Tyr639Ser
ENST00000558518.6:c.2036A>C MANE Select ENSP00000454071.1:p.Tyr679Ser
ENST00000252444.9:c.2290A>C
ENST00000455727.6:c.1532A>C ENSP00000397829.2:p.Tyr511Ser
ENST00000535915.5:c.1913A>C ENSP00000440520.1:p.Tyr638Ser
ENST00000545707.5:c.1606+185A>C ENSP00000437639.1:n.1606+185A>C
ENST00000557933.5:c.2036A>C ENSP00000453557.1:p.Tyr679Ser
ENST00000558013.5:c.2036A>C ENSP00000453346.1:p.Tyr679Ser
ENST00000558518.5:c.2036A>C ENSP00000454071.1:p.Tyr679Ser
NM_000527.4:c.2036A>C , LRG_274t1:c.2036A>C NP_000518.1:p.Tyr679Ser
NM_001195798.1:c.2036A>C NP_001182727.1:p.Tyr679Ser
NM_001195799.1:c.1913A>C NP_001182728.1:p.Tyr638Ser
NM_001195800.1:c.1532A>C NP_001182729.1:p.Tyr511Ser
NM_001195803.1:c.1606+185A>C NP_001182732.1:n.1606+185A>C
XM_011528010.1:c.2036A>C XP_011526312.1:p.Tyr679Ser
XM_011528011.1:c.1655A>C XP_011526313.1:p.Tyr552Ser
XR_244074.2:n.2046A>C
XM_011528010.2:c.2036A>C XP_011526312.1:p.Tyr679Ser
XR_001753685.2:n.2153A>C
XR_001753686.2:n.2013A>C
NM_000527.5:c.2036A>C MANE Select NP_000518.1:p.Tyr679Ser
NM_001195798.2:c.2036A>C NP_001182727.1:p.Tyr679Ser
NM_001195799.2:c.1913A>C NP_001182728.1:p.Tyr638Ser
NM_001195800.2:c.1532A>C NP_001182729.1:p.Tyr511Ser
NM_001195803.2:c.1606+185A>C NP_001182732.1:n.1606+185A>C