Canonical Allele Identifier: CA2579834337
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089411T>G , CM000681.2:g.11089411T>G GRCh38
NC_000019.9:g.11200087T>G , CM000681.1:g.11200087T>G GRCh37
NC_000019.8:g.11061087T>G NCBI36
NG_009060.1:g.5031T>G , LRG_274:g.5031T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000558518.5:c.-138T>G (LDLR) ENSP00000454071.1:n.-138T>G
NM_000527.4:c.-138T>G , LRG_274t1:c.-138T>G (LDLR) NP_000518.1:n.-138T>G
NM_001195798.1:c.-138T>G (LDLR) NP_001182727.1:n.-138T>G
NM_001195799.1:c.-138T>G (LDLR) NP_001182728.1:n.-138T>G
NM_001195800.1:c.-138T>G (LDLR) NP_001182729.1:n.-138T>G
NM_001195803.1:c.-138T>G (LDLR) NP_001182732.1:n.-138T>G
XM_011528010.1:c.-138T>G (LDLR) XP_011526312.1:n.-138T>G
XM_011528011.1:c.-138T>G (LDLR) XP_011526313.1:n.-138T>G
XR_244074.2:n.13T>G (LDLR)
NR_163945.1:n.249A>C (LDLR-AS1)