Canonical Allele Identifier: CA030790
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 224619
ClinVar RCV Id: RCV000210248 RCV000771133 RCV000736080 RCV001706207 RCV002372208
dbSNP Id: rs116405216
ExAC: 19:11221324 G / A
gnomAD v2: 19-11221324-G-A
gnomAD v3: 19-11110648-G-A
gnomAD v4: 19-11110648-G-A
MyVariant Identifiers: chr19:g.11221324G>A (hg19) chr19:g.11110648G>A (hg38)
ERepo: CA030790/MONDO:0007750/013
PubMed: PMID:10422804 PMID:16250003 PMID:27765764 PMID:28145427
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110648G>A , CM000681.2:g.11110648G>A GRCh38
NC_000019.9:g.11221324G>A , CM000681.1:g.11221324G>A GRCh37
NC_000019.8:g.11082324G>A NCBI36
NG_009060.1:g.26268G>A , LRG_274:g.26268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1199-4G>A ENSP00000252444.6:n.1199-4G>A
ENST00000559340.2:c.941-4G>A ENSP00000453696.2:n.941-4G>A
ENST00000560467.2:c.941-866G>A ENSP00000453513.2:n.941-866G>A
ENST00000558518.6:c.941-4G>A MANE Select ENSP00000454071.1:n.941-4G>A
ENST00000252444.9:c.1195-4G>A
ENST00000455727.6:c.437-4G>A ENSP00000397829.2:n.437-4G>A
ENST00000535915.5:c.818-4G>A ENSP00000440520.1:n.818-4G>A
ENST00000545707.5:c.560-4G>A ENSP00000437639.1:n.560-4G>A
ENST00000557933.5:c.941-4G>A ENSP00000453557.1:n.941-4G>A
ENST00000558013.5:c.941-4G>A ENSP00000453346.1:n.941-4G>A
ENST00000558518.5:c.941-4G>A ENSP00000454071.1:n.941-4G>A
ENST00000560467.1:c.541-866G>A
NM_000527.4:c.941-4G>A , LRG_274t1:c.941-4G>A NP_000518.1:n.941-4G>A
NM_001195798.1:c.941-4G>A NP_001182727.1:n.941-4G>A
NM_001195799.1:c.818-4G>A NP_001182728.1:n.818-4G>A
NM_001195800.1:c.437-4G>A NP_001182729.1:n.437-4G>A
NM_001195803.1:c.560-4G>A NP_001182732.1:n.560-4G>A
XM_011528010.1:c.941-4G>A XP_011526312.1:n.941-4G>A
XM_011528011.1:c.560-4G>A XP_011526313.1:n.560-4G>A
XR_244074.2:n.1091-4G>A
XM_011528010.2:c.941-4G>A XP_011526312.1:n.941-4G>A
XR_001753685.2:n.1058-4G>A
XR_001753686.2:n.1058-4G>A
NM_000527.5:c.941-4G>A MANE Select NP_000518.1:n.941-4G>A
NM_001195798.2:c.941-4G>A NP_001182727.1:n.941-4G>A
NM_001195799.2:c.818-4G>A NP_001182728.1:n.818-4G>A
NM_001195800.2:c.437-4G>A NP_001182729.1:n.437-4G>A
NM_001195803.2:c.560-4G>A NP_001182732.1:n.560-4G>A
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