Canonical Allele Identifier: CA10585126
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251447
ClinVar RCV Id: RCV000238511
dbSNP Id: rs757808215
MyVariant Identifiers: chr19:g.11217316G>T (hg19) chr19:g.11106640G>T (hg38)
PubMed: PMID:15823288
ERepo: CA10585126/MONDO:0007750/013
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106640G>T , CM000681.2:g.11106640G>T GRCh38
NC_000019.9:g.11217316G>T , CM000681.1:g.11217316G>T GRCh37
NC_000019.8:g.11078316G>T NCBI36
NG_009060.1:g.22260G>T , LRG_274:g.22260G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1028G>T ENSP00000252444.6:p.Arg343Leu
ENST00000559340.2:c.770G>T ENSP00000453696.2:p.Arg257Leu
ENST00000560467.2:c.770G>T ENSP00000453513.2:p.Arg257Leu
ENST00000558518.6:c.770G>T MANE Select ENSP00000454071.1:p.Arg257Leu
ENST00000252444.9:c.1024G>T
ENST00000455727.6:c.314-752G>T ENSP00000397829.2:n.314-752G>T
ENST00000535915.5:c.647G>T ENSP00000440520.1:p.Arg216Leu
ENST00000545707.5:c.389G>T ENSP00000437639.1:p.Arg130Leu
ENST00000557933.5:c.770G>T ENSP00000453557.1:p.Arg257Leu
ENST00000558013.5:c.770G>T ENSP00000453346.1:p.Arg257Leu
ENST00000558518.5:c.770G>T ENSP00000454071.1:p.Arg257Leu
ENST00000558528.1:n.285G>T
ENST00000560467.1:c.370G>T
NM_000527.4:c.770G>T , LRG_274t1:c.770G>T NP_000518.1:p.Arg257Leu
NM_001195798.1:c.770G>T NP_001182727.1:p.Arg257Leu
NM_001195799.1:c.647G>T NP_001182728.1:p.Arg216Leu
NM_001195800.1:c.314-752G>T NP_001182729.1:n.314-752G>T
NM_001195803.1:c.389G>T NP_001182732.1:p.Arg130Leu
XM_011528010.1:c.770G>T XP_011526312.1:p.Arg257Leu
XM_011528011.1:c.389G>T XP_011526313.1:p.Arg130Leu
XR_244074.2:n.920G>T
XM_011528010.2:c.770G>T XP_011526312.1:p.Arg257Leu
XR_001753685.2:n.887G>T
XR_001753686.2:n.887G>T
NM_000527.5:c.770G>T MANE Select NP_000518.1:p.Arg257Leu
NM_001195798.2:c.770G>T NP_001182727.1:p.Arg257Leu
NM_001195799.2:c.647G>T NP_001182728.1:p.Arg216Leu
NM_001195800.2:c.314-752G>T NP_001182729.1:n.314-752G>T
NM_001195803.2:c.389G>T NP_001182732.1:p.Arg130Leu
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