Canonical Allele Identifier: CA404098908
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129574C>T , CM000681.2:g.11129574C>T GRCh38
NC_000019.9:g.11240250C>T , CM000681.1:g.11240250C>T GRCh37
NC_000019.8:g.11101250C>T NCBI36
NG_009060.1:g.45194C>T , LRG_274:g.45194C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2709C>T ENSP00000252444.6:p.Asn903=
ENST00000559340.2:c.*520C>T ENSP00000453696.2:n.*520C>T
ENST00000560467.2:c.2331C>T ENSP00000453513.2:p.Asn777=
ENST00000558518.6:c.2451C>T MANE Select ENSP00000454071.1:p.Asn817=
ENST00000252444.9:c.2705C>T
ENST00000455727.6:c.1947C>T ENSP00000397829.2:p.Asn649=
ENST00000535915.5:c.2328C>T ENSP00000440520.1:p.Asn776=
ENST00000545707.5:c.1917C>T ENSP00000437639.1:p.Asn639=
ENST00000557933.5:c.2513C>T ENSP00000453557.1:p.Thr838Ile
ENST00000558013.5:c.2451C>T ENSP00000453346.1:p.Asn817=
ENST00000558518.5:c.2451C>T ENSP00000454071.1:p.Asn817=
ENST00000560628.1:n.108+1920C>T
NM_000527.4:c.2451C>T , LRG_274t1:c.2451C>T NP_000518.1:p.Asn817=
NM_001195798.1:c.2451C>T NP_001182727.1:p.Asn817=
NM_001195799.1:c.2328C>T NP_001182728.1:p.Asn776=
NM_001195800.1:c.1947C>T NP_001182729.1:p.Asn649=
NM_001195803.1:c.1917C>T NP_001182732.1:p.Asn639=
XM_011528010.1:c.2373C>T XP_011526312.1:p.Asn791=
XM_011528011.1:c.2070C>T XP_011526313.1:p.Asn690=
XR_244074.2:n.2461C>T
XM_011528010.2:c.2373C>T XP_011526312.1:p.Asn791=
XR_001753685.2:n.2785C>T
XR_001753686.2:n.2428C>T
NM_000527.5:c.2451C>T MANE Select NP_000518.1:p.Asn817=
NM_001195798.2:c.2451C>T NP_001182727.1:p.Asn817=
NM_001195799.2:c.2328C>T NP_001182728.1:p.Asn776=
NM_001195800.2:c.1947C>T NP_001182729.1:p.Asn649=
NM_001195803.2:c.1917C>T NP_001182732.1:p.Asn639=