Canonical Allele Identifier: CA404083596
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111580A>C , CM000681.2:g.11111580A>C GRCh38
NC_000019.9:g.11222256A>C , CM000681.1:g.11222256A>C GRCh37
NC_000019.8:g.11083256A>C NCBI36
NG_009060.1:g.27200A>C , LRG_274:g.27200A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1385A>C ENSP00000252444.6:p.Lys462Thr
ENST00000559340.2:c.1127A>C ENSP00000453696.2:p.Lys376Thr
ENST00000560467.2:c.1007A>C ENSP00000453513.2:p.Lys336Thr
ENST00000558518.6:c.1127A>C MANE Select ENSP00000454071.1:p.Lys376Thr
ENST00000252444.9:c.1381A>C
ENST00000455727.6:c.623A>C ENSP00000397829.2:p.Lys208Thr
ENST00000535915.5:c.1004A>C ENSP00000440520.1:p.Lys335Thr
ENST00000545707.5:c.746A>C ENSP00000437639.1:p.Lys249Thr
ENST00000557933.5:c.1127A>C ENSP00000453557.1:p.Lys376Thr
ENST00000558013.5:c.1127A>C ENSP00000453346.1:p.Lys376Thr
ENST00000558518.5:c.1127A>C ENSP00000454071.1:p.Lys376Thr
ENST00000560173.1:n.126A>C
ENST00000560467.1:c.607A>C
NM_000527.4:c.1127A>C , LRG_274t1:c.1127A>C NP_000518.1:p.Lys376Thr
NM_001195798.1:c.1127A>C NP_001182727.1:p.Lys376Thr
NM_001195799.1:c.1004A>C NP_001182728.1:p.Lys335Thr
NM_001195800.1:c.623A>C NP_001182729.1:p.Lys208Thr
NM_001195803.1:c.746A>C NP_001182732.1:p.Lys249Thr
XM_011528010.1:c.1127A>C XP_011526312.1:p.Lys376Thr
XM_011528011.1:c.746A>C XP_011526313.1:p.Lys249Thr
XR_244074.2:n.1277A>C
XM_011528010.2:c.1127A>C XP_011526312.1:p.Lys376Thr
XR_001753685.2:n.1244A>C
XR_001753686.2:n.1244A>C
NM_000527.5:c.1127A>C MANE Select NP_000518.1:p.Lys376Thr
NM_001195798.2:c.1127A>C NP_001182727.1:p.Lys376Thr
NM_001195799.2:c.1004A>C NP_001182728.1:p.Lys335Thr
NM_001195800.2:c.623A>C NP_001182729.1:p.Lys208Thr
NM_001195803.2:c.746A>C NP_001182732.1:p.Lys249Thr