Canonical Allele Identifier: CA2322780288
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129580C= , CM000681.2:g.11129580C= GRCh38
NC_000019.9:g.11240256C= , CM000681.1:g.11240256C= GRCh37
NC_000019.8:g.11101256C= NCBI36
NG_009060.1:g.45200C= , LRG_274:g.45200C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2715C= ENSP00000252444.6:p.Asn905=
ENST00000559340.2:c.*526C= ENSP00000453696.2:n.*526C=
ENST00000560467.2:c.2337C= ENSP00000453513.2:p.Asn779=
ENST00000558518.6:c.2457C= MANE Select ENSP00000454071.1:p.Asn819=
ENST00000252444.9:c.2711C=
ENST00000455727.6:c.1953C= ENSP00000397829.2:p.Asn651=
ENST00000535915.5:c.2334C= ENSP00000440520.1:p.Asn778=
ENST00000545707.5:c.1923C= ENSP00000437639.1:p.Asn641=
ENST00000557933.5:c.2519C= ENSP00000453557.1:p.Thr840=
ENST00000558013.5:c.2457C= ENSP00000453346.1:p.Asn819=
ENST00000558518.5:c.2457C= ENSP00000454071.1:p.Asn819=
ENST00000560628.1:n.108+1926C=
NM_000527.4:c.2457C= , LRG_274t1:c.2457C= NP_000518.1:p.Asn819=
NM_001195798.1:c.2457C= NP_001182727.1:p.Asn819=
NM_001195799.1:c.2334C= NP_001182728.1:p.Asn778=
NM_001195800.1:c.1953C= NP_001182729.1:p.Asn651=
NM_001195803.1:c.1923C= NP_001182732.1:p.Asn641=
XM_011528010.1:c.2379C= XP_011526312.1:p.Asn793=
XM_011528011.1:c.2076C= XP_011526313.1:p.Asn692=
XM_011528010.2:c.2379C= XP_011526312.1:p.Asn793=
XR_001753685.2:n.2791C=
XR_001753686.2:n.2434C=
NM_000527.5:c.2457C= MANE Select NP_000518.1:p.Asn819=
NM_001195798.2:c.2457C= NP_001182727.1:p.Asn819=
NM_001195799.2:c.2334C= NP_001182728.1:p.Asn778=
NM_001195800.2:c.1953C= NP_001182729.1:p.Asn651=
NM_001195803.2:c.1923C= NP_001182732.1:p.Asn641=