Canonical Allele Identifier: CA783240979
Gene: LDLR HGNC NCBI
SPC24 HGNC NCBI

Linked Data

dbSNP Id: rs1229597170
gnomAD v3: 19-11132408-G-A
gnomAD v4: 19-11132408-G-A
MyVariant Identifiers: chr19:g.11243084G>A (hg19) chr19:g.11132408G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132408G>A , CM000681.2:g.11132408G>A GRCh38
NC_000019.9:g.11243084G>A , CM000681.1:g.11243084G>A GRCh37
NC_000019.8:g.11104084G>A NCBI36
NG_009060.1:g.48028G>A , LRG_274:g.48028G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*1092G>A (LDLR) ENSP00000252444.6:n.*1092G>A
ENST00000559340.2:c.*1744G>A (LDLR) ENSP00000453696.2:n.*1744G>A
ENST00000560467.2:c.*1092G>A (LDLR) ENSP00000453513.2:n.*1092G>A
ENST00000558518.6:c.*1092G>A (LDLR) MANE Select ENSP00000454071.1:n.*1092G>A
ENST00000252444.9:c.3929G>A (LDLR)
ENST00000560628.1:n.109-687G>A (LDLR)
ENST00000585567.5:c.540-801C>T (SPC24) ENSP00000468818.1:n.540-801C>T
NM_000527.4:c.*1092G>A , LRG_274t1:c.*1092G>A (LDLR) NP_000518.1:n.*1092G>A
NM_001195798.1:c.*1092G>A (LDLR) NP_001182727.1:n.*1092G>A
NM_001195799.1:c.*1092G>A (LDLR) NP_001182728.1:n.*1092G>A
NM_001195800.1:c.*1092G>A (LDLR) NP_001182729.1:n.*1092G>A
NM_001195803.1:c.*1092G>A (LDLR) NP_001182732.1:n.*1092G>A
XM_011528010.1:c.*1092G>A (LDLR) XP_011526312.1:n.*1092G>A
XM_011528011.1:c.*1092G>A (LDLR) XP_011526313.1:n.*1092G>A
XM_011528010.2:c.*1092G>A (LDLR) XP_011526312.1:n.*1092G>A
XR_001753685.2:n.4009G>A (LDLR)
XR_001753686.2:n.3652G>A (LDLR)
NM_000527.5:c.*1092G>A (LDLR) MANE Select NP_000518.1:n.*1092G>A
NM_001195798.2:c.*1092G>A (LDLR) NP_001182727.1:n.*1092G>A
NM_001195799.2:c.*1092G>A (LDLR) NP_001182728.1:n.*1092G>A
NM_001195800.2:c.*1092G>A (LDLR) NP_001182729.1:n.*1092G>A
NM_001195803.2:c.*1092G>A (LDLR) NP_001182732.1:n.*1092G>A
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