Canonical Allele Identifier: CA2322770257
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110701T= , CM000681.2:g.11110701T= GRCh38
NC_000019.9:g.11221377T= , CM000681.1:g.11221377T= GRCh37
NC_000019.8:g.11082377T= NCBI36
NG_009060.1:g.26321T= , LRG_274:g.26321T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1248T= ENSP00000252444.6:p.Asn416=
ENST00000559340.2:c.990T= ENSP00000453696.2:p.Asn330=
ENST00000560467.2:c.941-813T= ENSP00000453513.2:n.941-813T=
ENST00000558518.6:c.990T= MANE Select ENSP00000454071.1:p.Asn330=
ENST00000252444.9:c.1244T=
ENST00000455727.6:c.486T= ENSP00000397829.2:p.Asn162=
ENST00000535915.5:c.867T= ENSP00000440520.1:p.Asn289=
ENST00000545707.5:c.609T= ENSP00000437639.1:p.Asn203=
ENST00000557933.5:c.990T= ENSP00000453557.1:p.Asn330=
ENST00000558013.5:c.990T= ENSP00000453346.1:p.Asn330=
ENST00000558518.5:c.990T= ENSP00000454071.1:p.Asn330=
ENST00000560467.1:c.541-813T=
NM_000527.4:c.990T= , LRG_274t1:c.990T= NP_000518.1:p.Asn330=
NM_001195798.1:c.990T= NP_001182727.1:p.Asn330=
NM_001195799.1:c.867T= NP_001182728.1:p.Asn289=
NM_001195800.1:c.486T= NP_001182729.1:p.Asn162=
NM_001195803.1:c.609T= NP_001182732.1:p.Asn203=
XM_011528010.1:c.990T= XP_011526312.1:p.Asn330=
XM_011528011.1:c.609T= XP_011526313.1:p.Asn203=
XR_244074.2:n.1140T=
XM_011528010.2:c.990T= XP_011526312.1:p.Asn330=
XR_001753685.2:n.1107T=
XR_001753686.2:n.1107T=
NM_000527.5:c.990T= MANE Select NP_000518.1:p.Asn330=
NM_001195798.2:c.990T= NP_001182727.1:p.Asn330=
NM_001195799.2:c.867T= NP_001182728.1:p.Asn289=
NM_001195800.2:c.486T= NP_001182729.1:p.Asn162=
NM_001195803.2:c.609T= NP_001182732.1:p.Asn203=