Canonical Allele Identifier: CA2579834585
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089496G>T , CM000681.2:g.11089496G>T GRCh38
NC_000019.9:g.11200172G>T , CM000681.1:g.11200172G>T GRCh37
NC_000019.8:g.11061172G>T NCBI36
NG_009060.1:g.5116G>T , LRG_274:g.5116G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000559340.2:c.-53G>T (LDLR) ENSP00000453696.2:n.-53G>T
ENST00000560467.2:c.-53G>T (LDLR) ENSP00000453513.2:n.-53G>T
ENST00000558518.6:c.-53G>T (LDLR) MANE Select ENSP00000454071.1:n.-53G>T
ENST00000455727.6:c.-53G>T (LDLR) ENSP00000397829.2:n.-53G>T
ENST00000535915.5:c.-53G>T (LDLR) ENSP00000440520.1:n.-53G>T
ENST00000545707.5:c.-53G>T (LDLR) ENSP00000437639.1:n.-53G>T
ENST00000557933.5:c.-53G>T (LDLR) ENSP00000453557.1:n.-53G>T
ENST00000557958.1:n.34G>T (LDLR)
ENST00000558013.5:c.-53G>T (LDLR) ENSP00000453346.1:n.-53G>T
ENST00000558518.5:c.-53G>T (LDLR) ENSP00000454071.1:n.-53G>T
ENST00000560502.5:n.34G>T (LDLR)
NM_000527.4:c.-53G>T , LRG_274t1:c.-53G>T (LDLR) NP_000518.1:n.-53G>T
NM_001195798.1:c.-53G>T (LDLR) NP_001182727.1:n.-53G>T
NM_001195799.1:c.-53G>T (LDLR) NP_001182728.1:n.-53G>T
NM_001195800.1:c.-53G>T (LDLR) NP_001182729.1:n.-53G>T
NM_001195803.1:c.-53G>T (LDLR) NP_001182732.1:n.-53G>T
XM_011528010.1:c.-53G>T (LDLR) XP_011526312.1:n.-53G>T
XM_011528011.1:c.-53G>T (LDLR) XP_011526313.1:n.-53G>T
XR_244074.2:n.98G>T (LDLR)
XM_011528010.2:c.-53G>T (LDLR) XP_011526312.1:n.-53G>T
XR_001753685.2:n.65G>T (LDLR)
XR_001753686.2:n.65G>T (LDLR)
NM_000527.5:c.-53G>T (LDLR) MANE Select NP_000518.1:n.-53G>T
NM_001195798.2:c.-53G>T (LDLR) NP_001182727.1:n.-53G>T
NM_001195799.2:c.-53G>T (LDLR) NP_001182728.1:n.-53G>T
NM_001195800.2:c.-53G>T (LDLR) NP_001182729.1:n.-53G>T
NM_001195803.2:c.-53G>T (LDLR) NP_001182732.1:n.-53G>T
NR_163945.1:n.164C>A (LDLR-AS1)