Canonical Allele Identifier: CA2322780347
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129686T= , CM000681.2:g.11129686T= GRCh38
NC_000019.9:g.11240362T= , CM000681.1:g.11240362T= GRCh37
NC_000019.8:g.11101362T= NCBI36
NG_009060.1:g.45306T= , LRG_274:g.45306T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2805+16T= ENSP00000252444.6:n.2805+16T=
ENST00000559340.2:c.*616+16T= ENSP00000453696.2:n.*616+16T=
ENST00000560467.2:c.2427+16T= ENSP00000453513.2:n.2427+16T=
ENST00000558518.6:c.2547+16T= MANE Select ENSP00000454071.1:n.2547+16T=
ENST00000252444.9:c.2801+16T=
ENST00000455727.6:c.2043+16T= ENSP00000397829.2:n.2043+16T=
ENST00000535915.5:c.2424+16T= ENSP00000440520.1:n.2424+16T=
ENST00000545707.5:c.2013+16T= ENSP00000437639.1:n.2013+16T=
ENST00000557933.5:c.2609+16T= ENSP00000453557.1:n.2609+16T=
ENST00000558013.5:c.2547+16T= ENSP00000453346.1:n.2547+16T=
ENST00000558518.5:c.2547+16T= ENSP00000454071.1:n.2547+16T=
ENST00000560628.1:n.108+2032T=
NM_000527.4:c.2547+16T= , LRG_274t1:c.2547+16T= NP_000518.1:n.2547+16T=
NM_001195798.1:c.2547+16T= NP_001182727.1:n.2547+16T=
NM_001195799.1:c.2424+16T= NP_001182728.1:n.2424+16T=
NM_001195800.1:c.2043+16T= NP_001182729.1:n.2043+16T=
NM_001195803.1:c.2013+16T= NP_001182732.1:n.2013+16T=
XM_011528010.1:c.2469+16T= XP_011526312.1:n.2469+16T=
XM_011528011.1:c.2166+16T= XP_011526313.1:n.2166+16T=
XM_011528010.2:c.2469+16T= XP_011526312.1:n.2469+16T=
XR_001753685.2:n.2881+16T=
XR_001753686.2:n.2524+16T=
NM_000527.5:c.2547+16T= MANE Select NP_000518.1:n.2547+16T=
NM_001195798.2:c.2547+16T= NP_001182727.1:n.2547+16T=
NM_001195799.2:c.2424+16T= NP_001182728.1:n.2424+16T=
NM_001195800.2:c.2043+16T= NP_001182729.1:n.2043+16T=
NM_001195803.2:c.2013+16T= NP_001182732.1:n.2013+16T=