Canonical Allele Identifier: CA404083856
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077378506

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111616A>C , CM000681.2:g.11111616A>C GRCh38
NC_000019.9:g.11222292A>C , CM000681.1:g.11222292A>C GRCh37
NC_000019.8:g.11083292A>C NCBI36
NG_009060.1:g.27236A>C , LRG_274:g.27236A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1421A>C ENSP00000252444.6:p.His474Pro
ENST00000559340.2:c.1163A>C ENSP00000453696.2:p.His388Pro
ENST00000560467.2:c.1043A>C ENSP00000453513.2:p.His348Pro
ENST00000558518.6:c.1163A>C MANE Select ENSP00000454071.1:p.His388Pro
ENST00000252444.9:c.1417A>C
ENST00000455727.6:c.659A>C ENSP00000397829.2:p.His220Pro
ENST00000535915.5:c.1040A>C ENSP00000440520.1:p.His347Pro
ENST00000545707.5:c.782A>C ENSP00000437639.1:p.His261Pro
ENST00000557933.5:c.1163A>C ENSP00000453557.1:p.His388Pro
ENST00000558013.5:c.1163A>C ENSP00000453346.1:p.His388Pro
ENST00000558518.5:c.1163A>C ENSP00000454071.1:p.His388Pro
ENST00000560173.1:n.162A>C
ENST00000560467.1:c.643A>C
NM_000527.4:c.1163A>C , LRG_274t1:c.1163A>C NP_000518.1:p.His388Pro
NM_001195798.1:c.1163A>C NP_001182727.1:p.His388Pro
NM_001195799.1:c.1040A>C NP_001182728.1:p.His347Pro
NM_001195800.1:c.659A>C NP_001182729.1:p.His220Pro
NM_001195803.1:c.782A>C NP_001182732.1:p.His261Pro
XM_011528010.1:c.1163A>C XP_011526312.1:p.His388Pro
XM_011528011.1:c.782A>C XP_011526313.1:p.His261Pro
XR_244074.2:n.1313A>C
XM_011528010.2:c.1163A>C XP_011526312.1:p.His388Pro
XR_001753685.2:n.1280A>C
XR_001753686.2:n.1280A>C
NM_000527.5:c.1163A>C MANE Select NP_000518.1:p.His388Pro
NM_001195798.2:c.1163A>C NP_001182727.1:p.His388Pro
NM_001195799.2:c.1040A>C NP_001182728.1:p.His347Pro
NM_001195800.2:c.659A>C NP_001182729.1:p.His220Pro
NM_001195803.2:c.782A>C NP_001182732.1:p.His261Pro