Canonical Allele Identifier: CA2322780279
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129563C= , CM000681.2:g.11129563C= GRCh38
NC_000019.9:g.11240239C= , CM000681.1:g.11240239C= GRCh37
NC_000019.8:g.11101239C= NCBI36
NG_009060.1:g.45183C= , LRG_274:g.45183C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2698C= ENSP00000252444.6:p.Arg900=
ENST00000559340.2:c.*509C= ENSP00000453696.2:n.*509C=
ENST00000560467.2:c.2320C= ENSP00000453513.2:p.Arg774=
ENST00000558518.6:c.2440C= MANE Select ENSP00000454071.1:p.Arg814=
ENST00000252444.9:c.2694C=
ENST00000455727.6:c.1936C= ENSP00000397829.2:p.Arg646=
ENST00000535915.5:c.2317C= ENSP00000440520.1:p.Arg773=
ENST00000545707.5:c.1906C= ENSP00000437639.1:p.Arg636=
ENST00000557933.5:c.2502C= ENSP00000453557.1:p.Gly834=
ENST00000558013.5:c.2440C= ENSP00000453346.1:p.Arg814=
ENST00000558518.5:c.2440C= ENSP00000454071.1:p.Arg814=
ENST00000560628.1:n.108+1909C=
NM_000527.4:c.2440C= , LRG_274t1:c.2440C= NP_000518.1:p.Arg814=
NM_001195798.1:c.2440C= NP_001182727.1:p.Arg814=
NM_001195799.1:c.2317C= NP_001182728.1:p.Arg773=
NM_001195800.1:c.1936C= NP_001182729.1:p.Arg646=
NM_001195803.1:c.1906C= NP_001182732.1:p.Arg636=
XM_011528010.1:c.2362C= XP_011526312.1:p.Arg788=
XM_011528011.1:c.2059C= XP_011526313.1:p.Arg687=
XR_244074.2:n.2450C=
XM_011528010.2:c.2362C= XP_011526312.1:p.Arg788=
XR_001753685.2:n.2774C=
XR_001753686.2:n.2417C=
NM_000527.5:c.2440C= MANE Select NP_000518.1:p.Arg814=
NM_001195798.2:c.2440C= NP_001182727.1:p.Arg814=
NM_001195799.2:c.2317C= NP_001182728.1:p.Arg773=
NM_001195800.2:c.1936C= NP_001182729.1:p.Arg646=
NM_001195803.2:c.1906C= NP_001182732.1:p.Arg636=