Canonical Allele Identifier: CA2322770215
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110658A= , CM000681.2:g.11110658A= GRCh38
NC_000019.9:g.11221334A= , CM000681.1:g.11221334A= GRCh37
NC_000019.8:g.11082334A= NCBI36
NG_009060.1:g.26278A= , LRG_274:g.26278A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1205A= ENSP00000252444.6:p.Asn402=
ENST00000559340.2:c.947A= ENSP00000453696.2:p.Asn316=
ENST00000560467.2:c.941-856A= ENSP00000453513.2:n.941-856A=
ENST00000558518.6:c.947A= MANE Select ENSP00000454071.1:p.Asn316=
ENST00000252444.9:c.1201A=
ENST00000455727.6:c.443A= ENSP00000397829.2:p.Asn148=
ENST00000535915.5:c.824A= ENSP00000440520.1:p.Asn275=
ENST00000545707.5:c.566A= ENSP00000437639.1:p.Asn189=
ENST00000557933.5:c.947A= ENSP00000453557.1:p.Asn316=
ENST00000558013.5:c.947A= ENSP00000453346.1:p.Asn316=
ENST00000558518.5:c.947A= ENSP00000454071.1:p.Asn316=
ENST00000560467.1:c.541-856A=
NM_000527.4:c.947A= , LRG_274t1:c.947A= NP_000518.1:p.Asn316=
NM_001195798.1:c.947A= NP_001182727.1:p.Asn316=
NM_001195799.1:c.824A= NP_001182728.1:p.Asn275=
NM_001195800.1:c.443A= NP_001182729.1:p.Asn148=
NM_001195803.1:c.566A= NP_001182732.1:p.Asn189=
XM_011528010.1:c.947A= XP_011526312.1:p.Asn316=
XM_011528011.1:c.566A= XP_011526313.1:p.Asn189=
XR_244074.2:n.1097A=
XM_011528010.2:c.947A= XP_011526312.1:p.Asn316=
XR_001753685.2:n.1064A=
XR_001753686.2:n.1064A=
NM_000527.5:c.947A= MANE Select NP_000518.1:p.Asn316=
NM_001195798.2:c.947A= NP_001182727.1:p.Asn316=
NM_001195799.2:c.824A= NP_001182728.1:p.Asn275=
NM_001195800.2:c.443A= NP_001182729.1:p.Asn148=
NM_001195803.2:c.566A= NP_001182732.1:p.Asn189=