Canonical Allele Identifier: CA2322770718
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111545C= , CM000681.2:g.11111545C= GRCh38
NC_000019.9:g.11222221C= , CM000681.1:g.11222221C= GRCh37
NC_000019.8:g.11083221C= NCBI36
NG_009060.1:g.27165C= , LRG_274:g.27165C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1350C= ENSP00000252444.6:p.Cys450=
ENST00000559340.2:c.1092C= ENSP00000453696.2:p.Cys364=
ENST00000560467.2:c.972C= ENSP00000453513.2:p.Cys324=
ENST00000558518.6:c.1092C= MANE Select ENSP00000454071.1:p.Cys364=
ENST00000252444.9:c.1346C=
ENST00000455727.6:c.588C= ENSP00000397829.2:p.Cys196=
ENST00000535915.5:c.969C= ENSP00000440520.1:p.Cys323=
ENST00000545707.5:c.711C= ENSP00000437639.1:p.Cys237=
ENST00000557933.5:c.1092C= ENSP00000453557.1:p.Cys364=
ENST00000558013.5:c.1092C= ENSP00000453346.1:p.Cys364=
ENST00000558518.5:c.1092C= ENSP00000454071.1:p.Cys364=
ENST00000560173.1:n.91C=
ENST00000560467.1:c.572C=
NM_000527.4:c.1092C= , LRG_274t1:c.1092C= NP_000518.1:p.Cys364=
NM_001195798.1:c.1092C= NP_001182727.1:p.Cys364=
NM_001195799.1:c.969C= NP_001182728.1:p.Cys323=
NM_001195800.1:c.588C= NP_001182729.1:p.Cys196=
NM_001195803.1:c.711C= NP_001182732.1:p.Cys237=
XM_011528010.1:c.1092C= XP_011526312.1:p.Cys364=
XM_011528011.1:c.711C= XP_011526313.1:p.Cys237=
XR_244074.2:n.1242C=
XM_011528010.2:c.1092C= XP_011526312.1:p.Cys364=
XR_001753685.2:n.1209C=
XR_001753686.2:n.1209C=
NM_000527.5:c.1092C= MANE Select NP_000518.1:p.Cys364=
NM_001195798.2:c.1092C= NP_001182727.1:p.Cys364=
NM_001195799.2:c.969C= NP_001182728.1:p.Cys323=
NM_001195800.2:c.588C= NP_001182729.1:p.Cys196=
NM_001195803.2:c.711C= NP_001182732.1:p.Cys237=