Canonical Allele Identifier: CA993515935

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132556A>C , CM000681.2:g.11132556A>C GRCh38
NC_000019.9:g.11243232A>C , CM000681.1:g.11243232A>C GRCh37
NC_000019.8:g.11104232A>C NCBI36
NG_009060.1:g.48176A>C , LRG_274:g.48176A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*1240A>C (LDLR) ENSP00000252444.6:n.*1240A>C
ENST00000559340.2:c.*1892A>C (LDLR) ENSP00000453696.2:n.*1892A>C
ENST00000560467.2:c.*1240A>C (LDLR) ENSP00000453513.2:n.*1240A>C
ENST00000558518.6:c.*1240A>C (LDLR) MANE Select ENSP00000454071.1:n.*1240A>C
ENST00000252444.9:c.4077A>C (LDLR)
ENST00000560628.1:n.109-539A>C (LDLR)
ENST00000585567.5:c.540-949T>G (SPC24) ENSP00000468818.1:n.540-949T>G
NM_000527.4:c.*1240A>C , LRG_274t1:c.*1240A>C (LDLR) NP_000518.1:n.*1240A>C
NM_001195798.1:c.*1240A>C (LDLR) NP_001182727.1:n.*1240A>C
NM_001195799.1:c.*1240A>C (LDLR) NP_001182728.1:n.*1240A>C
NM_001195800.1:c.*1240A>C (LDLR) NP_001182729.1:n.*1240A>C
NM_001195803.1:c.*1240A>C (LDLR) NP_001182732.1:n.*1240A>C
XM_011528010.1:c.*1240A>C (LDLR) XP_011526312.1:n.*1240A>C
XM_011528011.1:c.*1240A>C (LDLR) XP_011526313.1:n.*1240A>C
XM_011528010.2:c.*1240A>C (LDLR) XP_011526312.1:n.*1240A>C
XR_001753685.2:n.4157A>C (LDLR)
XR_001753686.2:n.3800A>C (LDLR)
NM_000527.5:c.*1240A>C (LDLR) MANE Select NP_000518.1:n.*1240A>C
NM_001195798.2:c.*1240A>C (LDLR) NP_001182727.1:n.*1240A>C
NM_001195799.2:c.*1240A>C (LDLR) NP_001182728.1:n.*1240A>C
NM_001195800.2:c.*1240A>C (LDLR) NP_001182729.1:n.*1240A>C
NM_001195803.2:c.*1240A>C (LDLR) NP_001182732.1:n.*1240A>C