Canonical Allele Identifier: CA2322766070
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102785T= , CM000681.2:g.11102785T= GRCh38
NC_000019.9:g.11213461T= , CM000681.1:g.11213461T= GRCh37
NC_000019.8:g.11074461T= NCBI36
NG_009060.1:g.18405T= , LRG_274:g.18405T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.570T= ENSP00000252444.6:p.Cys190=
ENST00000559340.2:c.312T= ENSP00000453696.2:p.Cys104=
ENST00000560467.2:c.312T= ENSP00000453513.2:p.Cys104=
ENST00000558518.6:c.312T= MANE Select ENSP00000454071.1:p.Cys104=
ENST00000252444.9:c.566T=
ENST00000455727.6:c.312T= ENSP00000397829.2:p.Cys104=
ENST00000535915.5:c.191-2435T= ENSP00000440520.1:n.191-2435T=
ENST00000545707.5:c.312T= ENSP00000437639.1:p.Cys104=
ENST00000557933.5:c.312T= ENSP00000453557.1:p.Cys104=
ENST00000557958.1:n.398T=
ENST00000558013.5:c.312T= ENSP00000453346.1:p.Cys104=
ENST00000558518.5:c.312T= ENSP00000454071.1:p.Cys104=
NM_000527.4:c.312T= , LRG_274t1:c.312T= NP_000518.1:p.Cys104=
NM_001195798.1:c.312T= NP_001182727.1:p.Cys104=
NM_001195799.1:c.191-2435T= NP_001182728.1:n.191-2435T=
NM_001195800.1:c.312T= NP_001182729.1:p.Cys104=
NM_001195803.1:c.312T= NP_001182732.1:p.Cys104=
XM_011528010.1:c.312T= XP_011526312.1:p.Cys104=
XM_011528011.1:c.312T= XP_011526313.1:p.Cys104=
XR_244074.2:n.462T=
XM_011528010.2:c.312T= XP_011526312.1:p.Cys104=
XR_001753685.2:n.429T=
XR_001753686.2:n.429T=
NM_000527.5:c.312T= MANE Select NP_000518.1:p.Cys104=
NM_001195798.2:c.312T= NP_001182727.1:p.Cys104=
NM_001195799.2:c.191-2435T= NP_001182728.1:n.191-2435T=
NM_001195800.2:c.312T= NP_001182729.1:p.Cys104=
NM_001195803.2:c.312T= NP_001182732.1:p.Cys104=