Canonical Allele Identifier: CA2322772040
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113740A= , CM000681.2:g.11113740A= GRCh38
NC_000019.9:g.11224416A= , CM000681.1:g.11224416A= GRCh37
NC_000019.8:g.11085416A= NCBI36
NG_009060.1:g.29360A= , LRG_274:g.29360A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1822A= ENSP00000252444.6:p.Ile608=
ENST00000559340.2:c.1564A= ENSP00000453696.2:p.Ile522=
ENST00000560467.2:c.1444A= ENSP00000453513.2:p.Ile482=
ENST00000558518.6:c.1564A= MANE Select ENSP00000454071.1:p.Ile522=
ENST00000252444.9:c.1818A=
ENST00000455727.6:c.1060A= ENSP00000397829.2:p.Ile354=
ENST00000535915.5:c.1441A= ENSP00000440520.1:p.Ile481=
ENST00000545707.5:c.1183A= ENSP00000437639.1:p.Ile395=
ENST00000557933.5:c.1564A= ENSP00000453557.1:p.Ile522=
ENST00000558013.5:c.1564A= ENSP00000453346.1:p.Ile522=
ENST00000558518.5:c.1564A= ENSP00000454071.1:p.Ile522=
ENST00000559340.1:c.285A=
NM_000527.4:c.1564A= , LRG_274t1:c.1564A= NP_000518.1:p.Ile522=
NM_001195798.1:c.1564A= NP_001182727.1:p.Ile522=
NM_001195799.1:c.1441A= NP_001182728.1:p.Ile481=
NM_001195800.1:c.1060A= NP_001182729.1:p.Ile354=
NM_001195803.1:c.1183A= NP_001182732.1:p.Ile395=
XM_011528010.1:c.1564A= XP_011526312.1:p.Ile522=
XM_011528011.1:c.1183A= XP_011526313.1:p.Ile395=
XR_244074.2:n.1714A=
XM_011528010.2:c.1564A= XP_011526312.1:p.Ile522=
XR_001753685.2:n.1681A=
XR_001753686.2:n.1681A=
NM_000527.5:c.1564A= MANE Select NP_000518.1:p.Ile522=
NM_001195798.2:c.1564A= NP_001182727.1:p.Ile522=
NM_001195799.2:c.1441A= NP_001182728.1:p.Ile481=
NM_001195800.2:c.1060A= NP_001182729.1:p.Ile354=
NM_001195803.2:c.1183A= NP_001182732.1:p.Ile395=