Canonical Allele Identifier: CA2322771710
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113312C= , CM000681.2:g.11113312C= GRCh38
NC_000019.9:g.11223988C= , CM000681.1:g.11223988C= GRCh37
NC_000019.8:g.11084988C= NCBI36
NG_009060.1:g.28932C= , LRG_274:g.28932C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1479C= ENSP00000252444.6:p.His493=
ENST00000559340.2:c.1221C= ENSP00000453696.2:p.His407=
ENST00000560467.2:c.1101C= ENSP00000453513.2:p.His367=
ENST00000558518.6:c.1221C= MANE Select ENSP00000454071.1:p.His407=
ENST00000252444.9:c.1475C=
ENST00000455727.6:c.717C= ENSP00000397829.2:p.His239=
ENST00000535915.5:c.1098C= ENSP00000440520.1:p.His366=
ENST00000545707.5:c.840C= ENSP00000437639.1:p.His280=
ENST00000557933.5:c.1221C= ENSP00000453557.1:p.His407=
ENST00000558013.5:c.1221C= ENSP00000453346.1:p.His407=
ENST00000558518.5:c.1221C= ENSP00000454071.1:p.His407=
ENST00000560173.1:n.220C=
ENST00000560467.1:c.701C=
NM_000527.4:c.1221C= , LRG_274t1:c.1221C= NP_000518.1:p.His407=
NM_001195798.1:c.1221C= NP_001182727.1:p.His407=
NM_001195799.1:c.1098C= NP_001182728.1:p.His366=
NM_001195800.1:c.717C= NP_001182729.1:p.His239=
NM_001195803.1:c.840C= NP_001182732.1:p.His280=
XM_011528010.1:c.1221C= XP_011526312.1:p.His407=
XM_011528011.1:c.840C= XP_011526313.1:p.His280=
XR_244074.2:n.1371C=
XM_011528010.2:c.1221C= XP_011526312.1:p.His407=
XR_001753685.2:n.1338C=
XR_001753686.2:n.1338C=
NM_000527.5:c.1221C= MANE Select NP_000518.1:p.His407=
NM_001195798.2:c.1221C= NP_001182727.1:p.His407=
NM_001195799.2:c.1098C= NP_001182728.1:p.His366=
NM_001195800.2:c.717C= NP_001182729.1:p.His239=
NM_001195803.2:c.840C= NP_001182732.1:p.His280=