Canonical Allele Identifier: CA2322780290
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129592T= , CM000681.2:g.11129592T= GRCh38
NC_000019.9:g.11240268T= , CM000681.1:g.11240268T= GRCh37
NC_000019.8:g.11101268T= NCBI36
NG_009060.1:g.45212T= , LRG_274:g.45212T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2727T= ENSP00000252444.6:p.Phe909=
ENST00000559340.2:c.*538T= ENSP00000453696.2:n.*538T=
ENST00000560467.2:c.2349T= ENSP00000453513.2:p.Phe783=
ENST00000558518.6:c.2469T= MANE Select ENSP00000454071.1:p.Phe823=
ENST00000252444.9:c.2723T=
ENST00000455727.6:c.1965T= ENSP00000397829.2:p.Phe655=
ENST00000535915.5:c.2346T= ENSP00000440520.1:p.Phe782=
ENST00000545707.5:c.1935T= ENSP00000437639.1:p.Phe645=
ENST00000557933.5:c.2531T= ENSP00000453557.1:p.Leu844=
ENST00000558013.5:c.2469T= ENSP00000453346.1:p.Phe823=
ENST00000558518.5:c.2469T= ENSP00000454071.1:p.Phe823=
ENST00000560628.1:n.108+1938T=
NM_000527.4:c.2469T= , LRG_274t1:c.2469T= NP_000518.1:p.Phe823=
NM_001195798.1:c.2469T= NP_001182727.1:p.Phe823=
NM_001195799.1:c.2346T= NP_001182728.1:p.Phe782=
NM_001195800.1:c.1965T= NP_001182729.1:p.Phe655=
NM_001195803.1:c.1935T= NP_001182732.1:p.Phe645=
XM_011528010.1:c.2391T= XP_011526312.1:p.Phe797=
XM_011528011.1:c.2088T= XP_011526313.1:p.Phe696=
XM_011528010.2:c.2391T= XP_011526312.1:p.Phe797=
XR_001753685.2:n.2803T=
XR_001753686.2:n.2446T=
NM_000527.5:c.2469T= MANE Select NP_000518.1:p.Phe823=
NM_001195798.2:c.2469T= NP_001182727.1:p.Phe823=
NM_001195799.2:c.2346T= NP_001182728.1:p.Phe782=
NM_001195800.2:c.1965T= NP_001182729.1:p.Phe655=
NM_001195803.2:c.1935T= NP_001182732.1:p.Phe645=