Canonical Allele Identifier: CA2579834251
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089379A>T , CM000681.2:g.11089379A>T GRCh38
NC_000019.9:g.11200055A>T , CM000681.1:g.11200055A>T GRCh37
NC_000019.8:g.11061055A>T NCBI36
NG_009060.1:g.4999A>T , LRG_274:g.4999A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000558518.5:c.-170A>T (LDLR) ENSP00000454071.1:n.-170A>T
NM_000527.4:c.-170A>T , LRG_274t1:c.-170A>T (LDLR) NP_000518.1:n.-170A>T
NM_001195798.1:c.-170A>T (LDLR) NP_001182727.1:n.-170A>T
NM_001195799.1:c.-170A>T (LDLR) NP_001182728.1:n.-170A>T
NM_001195800.1:c.-170A>T (LDLR) NP_001182729.1:n.-170A>T
NM_001195803.1:c.-170A>T (LDLR) NP_001182732.1:n.-170A>T
XM_011528011.1:c.-170A>T (LDLR) XP_011526313.1:n.-170A>T
NR_163945.1:n.281T>A (LDLR-AS1)