Canonical Allele Identifier: CA783253572
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1186802299

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11127933C>G , CM000681.2:g.11127933C>G GRCh38
NC_000019.9:g.11238609C>G , CM000681.1:g.11238609C>G GRCh37
NC_000019.8:g.11099609C>G NCBI36
NG_009060.1:g.43553C>G , LRG_274:g.43553C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2570-75C>G ENSP00000252444.6:n.2570-75C>G
ENST00000559340.2:c.*381-75C>G ENSP00000453696.2:n.*381-75C>G
ENST00000560467.2:c.2192-75C>G ENSP00000453513.2:n.2192-75C>G
ENST00000558518.6:c.2312-75C>G MANE Select ENSP00000454071.1:n.2312-75C>G
ENST00000252444.9:c.2566-75C>G
ENST00000455727.6:c.1808-75C>G ENSP00000397829.2:n.1808-75C>G
ENST00000535915.5:c.2189-75C>G ENSP00000440520.1:n.2189-75C>G
ENST00000545707.5:c.1778-75C>G ENSP00000437639.1:n.1778-75C>G
ENST00000557933.5:c.2312-75C>G ENSP00000453557.1:n.2312-75C>G
ENST00000558013.5:c.2312-75C>G ENSP00000453346.1:n.2312-75C>G
ENST00000558518.5:c.2312-75C>G ENSP00000454071.1:n.2312-75C>G
ENST00000560628.1:n.108+279C>G
NM_000527.4:c.2312-75C>G , LRG_274t1:c.2312-75C>G NP_000518.1:n.2312-75C>G
NM_001195798.1:c.2312-75C>G NP_001182727.1:n.2312-75C>G
NM_001195799.1:c.2189-75C>G NP_001182728.1:n.2189-75C>G
NM_001195800.1:c.1808-75C>G NP_001182729.1:n.1808-75C>G
NM_001195803.1:c.1778-75C>G NP_001182732.1:n.1778-75C>G
XM_011528010.1:c.2312-1580C>G XP_011526312.1:n.2312-1580C>G
XM_011528011.1:c.1931-75C>G XP_011526313.1:n.1931-75C>G
XR_244074.2:n.2322-75C>G
XM_011528010.2:c.2312-1580C>G XP_011526312.1:n.2312-1580C>G
XR_001753685.2:n.2646-75C>G
XR_001753686.2:n.2289-75C>G
NM_000527.5:c.2312-75C>G MANE Select NP_000518.1:n.2312-75C>G
NM_001195798.2:c.2312-75C>G NP_001182727.1:n.2312-75C>G
NM_001195799.2:c.2189-75C>G NP_001182728.1:n.2189-75C>G
NM_001195800.2:c.1808-75C>G NP_001182729.1:n.1808-75C>G
NM_001195803.2:c.1778-75C>G NP_001182732.1:n.1778-75C>G