Canonical Allele Identifier: CA2322780278
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129562G= , CM000681.2:g.11129562G= GRCh38
NC_000019.9:g.11240238G= , CM000681.1:g.11240238G= GRCh37
NC_000019.8:g.11101238G= NCBI36
NG_009060.1:g.45182G= , LRG_274:g.45182G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2697G= ENSP00000252444.6:p.Trp899=
ENST00000559340.2:c.*508G= ENSP00000453696.2:n.*508G=
ENST00000560467.2:c.2319G= ENSP00000453513.2:p.Trp773=
ENST00000558518.6:c.2439G= MANE Select ENSP00000454071.1:p.Trp813=
ENST00000252444.9:c.2693G=
ENST00000455727.6:c.1935G= ENSP00000397829.2:p.Trp645=
ENST00000535915.5:c.2316G= ENSP00000440520.1:p.Trp772=
ENST00000545707.5:c.1905G= ENSP00000437639.1:p.Trp635=
ENST00000557933.5:c.2501G= ENSP00000453557.1:p.Gly834=
ENST00000558013.5:c.2439G= ENSP00000453346.1:p.Trp813=
ENST00000558518.5:c.2439G= ENSP00000454071.1:p.Trp813=
ENST00000560628.1:n.108+1908G=
NM_000527.4:c.2439G= , LRG_274t1:c.2439G= NP_000518.1:p.Trp813=
NM_001195798.1:c.2439G= NP_001182727.1:p.Trp813=
NM_001195799.1:c.2316G= NP_001182728.1:p.Trp772=
NM_001195800.1:c.1935G= NP_001182729.1:p.Trp645=
NM_001195803.1:c.1905G= NP_001182732.1:p.Trp635=
XM_011528010.1:c.2361G= XP_011526312.1:p.Trp787=
XM_011528011.1:c.2058G= XP_011526313.1:p.Trp686=
XR_244074.2:n.2449G=
XM_011528010.2:c.2361G= XP_011526312.1:p.Trp787=
XR_001753685.2:n.2773G=
XR_001753686.2:n.2416G=
NM_000527.5:c.2439G= MANE Select NP_000518.1:p.Trp813=
NM_001195798.2:c.2439G= NP_001182727.1:p.Trp813=
NM_001195799.2:c.2316G= NP_001182728.1:p.Trp772=
NM_001195800.2:c.1935G= NP_001182729.1:p.Trp645=
NM_001195803.2:c.1905G= NP_001182732.1:p.Trp635=