Canonical Allele Identifier: CA2579834352
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089420T>C , CM000681.2:g.11089420T>C GRCh38
NC_000019.9:g.11200096T>C , CM000681.1:g.11200096T>C GRCh37
NC_000019.8:g.11061096T>C NCBI36
NG_009060.1:g.5040T>C , LRG_274:g.5040T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000559340.2:c.-129T>C (LDLR) ENSP00000453696.2:n.-129T>C
ENST00000558518.5:c.-129T>C (LDLR) ENSP00000454071.1:n.-129T>C
NM_000527.4:c.-129T>C , LRG_274t1:c.-129T>C (LDLR) NP_000518.1:n.-129T>C
NM_001195798.1:c.-129T>C (LDLR) NP_001182727.1:n.-129T>C
NM_001195799.1:c.-129T>C (LDLR) NP_001182728.1:n.-129T>C
NM_001195800.1:c.-129T>C (LDLR) NP_001182729.1:n.-129T>C
NM_001195803.1:c.-129T>C (LDLR) NP_001182732.1:n.-129T>C
XM_011528010.1:c.-129T>C (LDLR) XP_011526312.1:n.-129T>C
XM_011528011.1:c.-129T>C (LDLR) XP_011526313.1:n.-129T>C
XR_244074.2:n.22T>C (LDLR)
NR_163945.1:n.240A>G (LDLR-AS1)