Canonical Allele Identifier: CA10652217
Gene: LDLR HGNC NCBI
SPC24 HGNC NCBI

Linked Data

ClinVar Variation Id: 328081
ClinVar RCV Id: RCV000313295
dbSNP Id: rs189408873
gnomAD v2: 19-11242986-C-T
gnomAD v3: 19-11132310-C-T
gnomAD v4: 19-11132310-C-T
MyVariant Identifiers: chr19:g.11242986C>T (hg19) chr19:g.11132310C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132310C>T , CM000681.2:g.11132310C>T GRCh38
NC_000019.9:g.11242986C>T , CM000681.1:g.11242986C>T GRCh37
NC_000019.8:g.11103986C>T NCBI36
NG_009060.1:g.47930C>T , LRG_274:g.47930C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*994C>T (LDLR) ENSP00000252444.6:n.*994C>T
ENST00000559340.2:c.*1646C>T (LDLR) ENSP00000453696.2:n.*1646C>T
ENST00000560467.2:c.*994C>T (LDLR) ENSP00000453513.2:n.*994C>T
ENST00000558518.6:c.*994C>T (LDLR) MANE Select ENSP00000454071.1:n.*994C>T
ENST00000252444.9:c.3831C>T (LDLR)
ENST00000560628.1:n.109-785C>T (LDLR)
ENST00000585567.5:c.540-703G>A (SPC24) ENSP00000468818.1:n.540-703G>A
NM_000527.4:c.*994C>T , LRG_274t1:c.*994C>T (LDLR) NP_000518.1:n.*994C>T
NM_001195798.1:c.*994C>T (LDLR) NP_001182727.1:n.*994C>T
NM_001195799.1:c.*994C>T (LDLR) NP_001182728.1:n.*994C>T
NM_001195800.1:c.*994C>T (LDLR) NP_001182729.1:n.*994C>T
NM_001195803.1:c.*994C>T (LDLR) NP_001182732.1:n.*994C>T
XM_011528010.1:c.*994C>T (LDLR) XP_011526312.1:n.*994C>T
XM_011528011.1:c.*994C>T (LDLR) XP_011526313.1:n.*994C>T
XM_011528010.2:c.*994C>T (LDLR) XP_011526312.1:n.*994C>T
XR_001753685.2:n.3911C>T (LDLR)
XR_001753686.2:n.3554C>T (LDLR)
NM_000527.5:c.*994C>T (LDLR) MANE Select NP_000518.1:n.*994C>T
NM_001195798.2:c.*994C>T (LDLR) NP_001182727.1:n.*994C>T
NM_001195799.2:c.*994C>T (LDLR) NP_001182728.1:n.*994C>T
NM_001195800.2:c.*994C>T (LDLR) NP_001182729.1:n.*994C>T
NM_001195803.2:c.*994C>T (LDLR) NP_001182732.1:n.*994C>T
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