Canonical Allele Identifier: CA2322777202
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123233A= , CM000681.2:g.11123233A= GRCh38
NC_000019.9:g.11233909A= , CM000681.1:g.11233909A= GRCh37
NC_000019.8:g.11094909A= NCBI36
NG_009060.1:g.38853A= , LRG_274:g.38853A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2458A= ENSP00000252444.6:p.Thr820=
ENST00000559340.2:c.*269A= ENSP00000453696.2:n.*269A=
ENST00000560467.2:c.2080A= ENSP00000453513.2:p.Thr694=
ENST00000558518.6:c.2200A= MANE Select ENSP00000454071.1:p.Thr734=
ENST00000252444.9:c.2454A=
ENST00000455727.6:c.1696A= ENSP00000397829.2:p.Thr566=
ENST00000535915.5:c.2077A= ENSP00000440520.1:p.Thr693=
ENST00000545707.5:c.1666A= ENSP00000437639.1:p.Thr556=
ENST00000557933.5:c.2200A= ENSP00000453557.1:p.Thr734=
ENST00000558013.5:c.2200A= ENSP00000453346.1:p.Thr734=
ENST00000558518.5:c.2200A= ENSP00000454071.1:p.Thr734=
NM_000527.4:c.2200A= , LRG_274t1:c.2200A= NP_000518.1:p.Thr734=
NM_001195798.1:c.2200A= NP_001182727.1:p.Thr734=
NM_001195799.1:c.2077A= NP_001182728.1:p.Thr693=
NM_001195800.1:c.1696A= NP_001182729.1:p.Thr566=
NM_001195803.1:c.1666A= NP_001182732.1:p.Thr556=
XM_011528010.1:c.2200A= XP_011526312.1:p.Thr734=
XM_011528011.1:c.1819A= XP_011526313.1:p.Thr607=
XR_244074.2:n.2210A=
XM_011528010.2:c.2200A= XP_011526312.1:p.Thr734=
XR_001753685.2:n.2534A=
XR_001753686.2:n.2177A=
NM_000527.5:c.2200A= MANE Select NP_000518.1:p.Thr734=
NM_001195798.2:c.2200A= NP_001182727.1:p.Thr734=
NM_001195799.2:c.2077A= NP_001182728.1:p.Thr693=
NM_001195800.2:c.1696A= NP_001182729.1:p.Thr566=
NM_001195803.2:c.1666A= NP_001182732.1:p.Thr556=