Canonical Allele Identifier: CA2322779562
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128080C= , CM000681.2:g.11128080C= GRCh38
NC_000019.9:g.11238756C= , CM000681.1:g.11238756C= GRCh37
NC_000019.8:g.11099756C= NCBI36
NG_009060.1:g.43700C= , LRG_274:g.43700C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2642C= ENSP00000252444.6:p.Pro881=
ENST00000559340.2:c.*453C= ENSP00000453696.2:n.*453C=
ENST00000560467.2:c.2264C= ENSP00000453513.2:p.Pro755=
ENST00000558518.6:c.2384C= MANE Select ENSP00000454071.1:p.Pro795=
ENST00000252444.9:c.2638C=
ENST00000455727.6:c.1880C= ENSP00000397829.2:p.Pro627=
ENST00000535915.5:c.2261C= ENSP00000440520.1:p.Pro754=
ENST00000545707.5:c.1850C= ENSP00000437639.1:p.Pro617=
ENST00000557933.5:c.2384C= ENSP00000453557.1:p.Pro795=
ENST00000558013.5:c.2384C= ENSP00000453346.1:p.Pro795=
ENST00000558518.5:c.2384C= ENSP00000454071.1:p.Pro795=
ENST00000560628.1:n.108+426C=
NM_000527.4:c.2384C= , LRG_274t1:c.2384C= NP_000518.1:p.Pro795=
NM_001195798.1:c.2384C= NP_001182727.1:p.Pro795=
NM_001195799.1:c.2261C= NP_001182728.1:p.Pro754=
NM_001195800.1:c.1880C= NP_001182729.1:p.Pro627=
NM_001195803.1:c.1850C= NP_001182732.1:p.Pro617=
XM_011528010.1:c.2312-1433C= XP_011526312.1:n.2312-1433C=
XM_011528011.1:c.2003C= XP_011526313.1:p.Pro668=
XR_244074.2:n.2394C=
XM_011528010.2:c.2312-1433C= XP_011526312.1:n.2312-1433C=
XR_001753685.2:n.2718C=
XR_001753686.2:n.2361C=
NM_000527.5:c.2384C= MANE Select NP_000518.1:p.Pro795=
NM_001195798.2:c.2384C= NP_001182727.1:p.Pro795=
NM_001195799.2:c.2261C= NP_001182728.1:p.Pro754=
NM_001195800.2:c.1880C= NP_001182729.1:p.Pro627=
NM_001195803.2:c.1850C= NP_001182732.1:p.Pro617=