Canonical Allele Identifier: CA2322771683
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113281C= , CM000681.2:g.11113281C= GRCh38
NC_000019.9:g.11223957C= , CM000681.1:g.11223957C= GRCh37
NC_000019.8:g.11084957C= NCBI36
NG_009060.1:g.28901C= , LRG_274:g.28901C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1448C= ENSP00000252444.6:p.Ser483=
ENST00000559340.2:c.1190C= ENSP00000453696.2:p.Ser397=
ENST00000560467.2:c.1070C= ENSP00000453513.2:p.Ser357=
ENST00000558518.6:c.1190C= MANE Select ENSP00000454071.1:p.Ser397=
ENST00000252444.9:c.1444C=
ENST00000455727.6:c.686C= ENSP00000397829.2:p.Ser229=
ENST00000535915.5:c.1067C= ENSP00000440520.1:p.Ser356=
ENST00000545707.5:c.809C= ENSP00000437639.1:p.Ser270=
ENST00000557933.5:c.1190C= ENSP00000453557.1:p.Ser397=
ENST00000558013.5:c.1190C= ENSP00000453346.1:p.Ser397=
ENST00000558518.5:c.1190C= ENSP00000454071.1:p.Ser397=
ENST00000560173.1:n.189C=
ENST00000560467.1:c.670C=
NM_000527.4:c.1190C= , LRG_274t1:c.1190C= NP_000518.1:p.Ser397=
NM_001195798.1:c.1190C= NP_001182727.1:p.Ser397=
NM_001195799.1:c.1067C= NP_001182728.1:p.Ser356=
NM_001195800.1:c.686C= NP_001182729.1:p.Ser229=
NM_001195803.1:c.809C= NP_001182732.1:p.Ser270=
XM_011528010.1:c.1190C= XP_011526312.1:p.Ser397=
XM_011528011.1:c.809C= XP_011526313.1:p.Ser270=
XR_244074.2:n.1340C=
XM_011528010.2:c.1190C= XP_011526312.1:p.Ser397=
XR_001753685.2:n.1307C=
XR_001753686.2:n.1307C=
NM_000527.5:c.1190C= MANE Select NP_000518.1:p.Ser397=
NM_001195798.2:c.1190C= NP_001182727.1:p.Ser397=
NM_001195799.2:c.1067C= NP_001182728.1:p.Ser356=
NM_001195800.2:c.686C= NP_001182729.1:p.Ser229=
NM_001195803.2:c.809C= NP_001182732.1:p.Ser270=