Canonical Allele Identifier: CA404089800
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116951G>A , CM000681.2:g.11116951G>A GRCh38
NC_000019.9:g.11227627G>A , CM000681.1:g.11227627G>A GRCh37
NC_000019.8:g.11088627G>A NCBI36
NG_009060.1:g.32571G>A , LRG_274:g.32571G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2056G>A ENSP00000252444.6:p.Glu686Lys
ENST00000559340.2:c.1705+739G>A ENSP00000453696.2:n.1705+739G>A
ENST00000560467.2:c.1678G>A ENSP00000453513.2:p.Glu560Lys
ENST00000558518.6:c.1798G>A MANE Select ENSP00000454071.1:p.Glu600Lys
ENST00000252444.9:c.2052G>A
ENST00000455727.6:c.1294G>A ENSP00000397829.2:p.Glu432Lys
ENST00000535915.5:c.1675G>A ENSP00000440520.1:p.Glu559Lys
ENST00000545707.5:c.1417G>A ENSP00000437639.1:p.Glu473Lys
ENST00000557933.5:c.1798G>A ENSP00000453557.1:p.Glu600Lys
ENST00000558013.5:c.1798G>A ENSP00000453346.1:p.Glu600Lys
ENST00000558518.5:c.1798G>A ENSP00000454071.1:p.Glu600Lys
ENST00000559340.1:c.426+739G>A
NM_000527.4:c.1798G>A , LRG_274t1:c.1798G>A NP_000518.1:p.Glu600Lys
NM_001195798.1:c.1798G>A NP_001182727.1:p.Glu600Lys
NM_001195799.1:c.1675G>A NP_001182728.1:p.Glu559Lys
NM_001195800.1:c.1294G>A NP_001182729.1:p.Glu432Lys
NM_001195803.1:c.1417G>A NP_001182732.1:p.Glu473Lys
XM_011528010.1:c.1798G>A XP_011526312.1:p.Glu600Lys
XM_011528011.1:c.1417G>A XP_011526313.1:p.Glu473Lys
XR_244074.2:n.1855+739G>A
XM_011528010.2:c.1798G>A XP_011526312.1:p.Glu600Lys
XR_001753685.2:n.1915G>A
XR_001753686.2:n.1822+739G>A
NM_000527.5:c.1798G>A MANE Select NP_000518.1:p.Glu600Lys
NM_001195798.2:c.1798G>A NP_001182727.1:p.Glu600Lys
NM_001195799.2:c.1675G>A NP_001182728.1:p.Glu559Lys
NM_001195800.2:c.1294G>A NP_001182729.1:p.Glu432Lys
NM_001195803.2:c.1417G>A NP_001182732.1:p.Glu473Lys