Canonical Allele Identifier: CA2322775578
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120426C= , CM000681.2:g.11120426C= GRCh38
NC_000019.9:g.11231102C= , CM000681.1:g.11231102C= GRCh37
NC_000019.8:g.11092102C= NCBI36
NG_009060.1:g.36046C= , LRG_274:g.36046C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2302C= ENSP00000252444.6:p.Leu768=
ENST00000559340.2:c.*113C= ENSP00000453696.2:n.*113C=
ENST00000560467.2:c.1924C= ENSP00000453513.2:p.Leu642=
ENST00000558518.6:c.2044C= MANE Select ENSP00000454071.1:p.Leu682=
ENST00000252444.9:c.2298C=
ENST00000455727.6:c.1540C= ENSP00000397829.2:p.Leu514=
ENST00000535915.5:c.1921C= ENSP00000440520.1:p.Leu641=
ENST00000545707.5:c.1606+193C= ENSP00000437639.1:n.1606+193C=
ENST00000557933.5:c.2044C= ENSP00000453557.1:p.Leu682=
ENST00000558013.5:c.2044C= ENSP00000453346.1:p.Leu682=
ENST00000558518.5:c.2044C= ENSP00000454071.1:p.Leu682=
NM_000527.4:c.2044C= , LRG_274t1:c.2044C= NP_000518.1:p.Leu682=
NM_001195798.1:c.2044C= NP_001182727.1:p.Leu682=
NM_001195799.1:c.1921C= NP_001182728.1:p.Leu641=
NM_001195800.1:c.1540C= NP_001182729.1:p.Leu514=
NM_001195803.1:c.1606+193C= NP_001182732.1:n.1606+193C=
XM_011528010.1:c.2044C= XP_011526312.1:p.Leu682=
XM_011528011.1:c.1663C= XP_011526313.1:p.Leu555=
XR_244074.2:n.2054C=
XM_011528010.2:c.2044C= XP_011526312.1:p.Leu682=
XR_001753685.2:n.2161C=
XR_001753686.2:n.2021C=
NM_000527.5:c.2044C= MANE Select NP_000518.1:p.Leu682=
NM_001195798.2:c.2044C= NP_001182727.1:p.Leu682=
NM_001195799.2:c.1921C= NP_001182728.1:p.Leu641=
NM_001195800.2:c.1540C= NP_001182729.1:p.Leu514=
NM_001195803.2:c.1606+193C= NP_001182732.1:n.1606+193C=