Canonical Allele Identifier: CA305300197
Gene: LDLR HGNC NCBI
SPC24 HGNC NCBI

Linked Data

dbSNP Id: rs933578781
gnomAD v3: 19-11132313-G-C
gnomAD v4: 19-11132313-G-C
MyVariant Identifiers: chr19:g.11242989G>C (hg19) chr19:g.11132313G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132313G>C , CM000681.2:g.11132313G>C GRCh38
NC_000019.9:g.11242989G>C , CM000681.1:g.11242989G>C GRCh37
NC_000019.8:g.11103989G>C NCBI36
NG_009060.1:g.47933G>C , LRG_274:g.47933G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*997G>C (LDLR) ENSP00000252444.6:n.*997G>C
ENST00000559340.2:c.*1649G>C (LDLR) ENSP00000453696.2:n.*1649G>C
ENST00000560467.2:c.*997G>C (LDLR) ENSP00000453513.2:n.*997G>C
ENST00000558518.6:c.*997G>C (LDLR) MANE Select ENSP00000454071.1:n.*997G>C
ENST00000252444.9:c.3834G>C (LDLR)
ENST00000560628.1:n.109-782G>C (LDLR)
ENST00000585567.5:c.540-706C>G (SPC24) ENSP00000468818.1:n.540-706C>G
NM_000527.4:c.*997G>C , LRG_274t1:c.*997G>C (LDLR) NP_000518.1:n.*997G>C
NM_001195798.1:c.*997G>C (LDLR) NP_001182727.1:n.*997G>C
NM_001195799.1:c.*997G>C (LDLR) NP_001182728.1:n.*997G>C
NM_001195800.1:c.*997G>C (LDLR) NP_001182729.1:n.*997G>C
NM_001195803.1:c.*997G>C (LDLR) NP_001182732.1:n.*997G>C
XM_011528010.1:c.*997G>C (LDLR) XP_011526312.1:n.*997G>C
XM_011528011.1:c.*997G>C (LDLR) XP_011526313.1:n.*997G>C
XM_011528010.2:c.*997G>C (LDLR) XP_011526312.1:n.*997G>C
XR_001753685.2:n.3914G>C (LDLR)
XR_001753686.2:n.3557G>C (LDLR)
NM_000527.5:c.*997G>C (LDLR) MANE Select NP_000518.1:n.*997G>C
NM_001195798.2:c.*997G>C (LDLR) NP_001182727.1:n.*997G>C
NM_001195799.2:c.*997G>C (LDLR) NP_001182728.1:n.*997G>C
NM_001195800.2:c.*997G>C (LDLR) NP_001182729.1:n.*997G>C
NM_001195803.2:c.*997G>C (LDLR) NP_001182732.1:n.*997G>C
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