Canonical Allele Identifier: CA404084697
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431523
ClinVar RCV Id: RCV000497202
dbSNP Id: rs879254834
MyVariant Identifiers: chr19:g.11223977A>T (hg19) chr19:g.11113301A>T (hg38)
ERepo: CA404084697/MONDO:0007750/013
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113301A>T , CM000681.2:g.11113301A>T GRCh38
NC_000019.9:g.11223977A>T , CM000681.1:g.11223977A>T GRCh37
NC_000019.8:g.11084977A>T NCBI36
NG_009060.1:g.28921A>T , LRG_274:g.28921A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1468A>T ENSP00000252444.6:p.Thr490Ser
ENST00000559340.2:c.1210A>T ENSP00000453696.2:p.Thr404Ser
ENST00000560467.2:c.1090A>T ENSP00000453513.2:p.Thr364Ser
ENST00000558518.6:c.1210A>T MANE Select ENSP00000454071.1:p.Thr404Ser
ENST00000252444.9:c.1464A>T
ENST00000455727.6:c.706A>T ENSP00000397829.2:p.Thr236Ser
ENST00000535915.5:c.1087A>T ENSP00000440520.1:p.Thr363Ser
ENST00000545707.5:c.829A>T ENSP00000437639.1:p.Thr277Ser
ENST00000557933.5:c.1210A>T ENSP00000453557.1:p.Thr404Ser
ENST00000558013.5:c.1210A>T ENSP00000453346.1:p.Thr404Ser
ENST00000558518.5:c.1210A>T ENSP00000454071.1:p.Thr404Ser
ENST00000560173.1:n.209A>T
ENST00000560467.1:c.690A>T
NM_000527.4:c.1210A>T , LRG_274t1:c.1210A>T NP_000518.1:p.Thr404Ser
NM_001195798.1:c.1210A>T NP_001182727.1:p.Thr404Ser
NM_001195799.1:c.1087A>T NP_001182728.1:p.Thr363Ser
NM_001195800.1:c.706A>T NP_001182729.1:p.Thr236Ser
NM_001195803.1:c.829A>T NP_001182732.1:p.Thr277Ser
XM_011528010.1:c.1210A>T XP_011526312.1:p.Thr404Ser
XM_011528011.1:c.829A>T XP_011526313.1:p.Thr277Ser
XR_244074.2:n.1360A>T
XM_011528010.2:c.1210A>T XP_011526312.1:p.Thr404Ser
XR_001753685.2:n.1327A>T
XR_001753686.2:n.1327A>T
NM_000527.5:c.1210A>T MANE Select NP_000518.1:p.Thr404Ser
NM_001195798.2:c.1210A>T NP_001182727.1:p.Thr404Ser
NM_001195799.2:c.1087A>T NP_001182728.1:p.Thr363Ser
NM_001195800.2:c.706A>T NP_001182729.1:p.Thr236Ser
NM_001195803.2:c.829A>T NP_001182732.1:p.Thr277Ser
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