Canonical Allele Identifier: CA404080307
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11217361A>T (hg19) chr19:g.11106685A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106685A>T , CM000681.2:g.11106685A>T GRCh38
NC_000019.9:g.11217361A>T , CM000681.1:g.11217361A>T GRCh37
NC_000019.8:g.11078361A>T NCBI36
NG_009060.1:g.22305A>T , LRG_274:g.22305A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1073A>T ENSP00000252444.6:p.Asn358Ile
ENST00000559340.2:c.815A>T ENSP00000453696.2:p.Asn272Ile
ENST00000560467.2:c.815A>T ENSP00000453513.2:p.Asn272Ile
ENST00000558518.6:c.815A>T MANE Select ENSP00000454071.1:p.Asn272Ile
ENST00000252444.9:c.1069A>T
ENST00000455727.6:c.314-707A>T ENSP00000397829.2:n.314-707A>T
ENST00000535915.5:c.692A>T ENSP00000440520.1:p.Asn231Ile
ENST00000545707.5:c.434A>T ENSP00000437639.1:p.Asn145Ile
ENST00000557933.5:c.815A>T ENSP00000453557.1:p.Asn272Ile
ENST00000558013.5:c.815A>T ENSP00000453346.1:p.Asn272Ile
ENST00000558518.5:c.815A>T ENSP00000454071.1:p.Asn272Ile
ENST00000558528.1:n.330A>T
ENST00000560467.1:c.415A>T
NM_000527.4:c.815A>T , LRG_274t1:c.815A>T NP_000518.1:p.Asn272Ile
NM_001195798.1:c.815A>T NP_001182727.1:p.Asn272Ile
NM_001195799.1:c.692A>T NP_001182728.1:p.Asn231Ile
NM_001195800.1:c.314-707A>T NP_001182729.1:n.314-707A>T
NM_001195803.1:c.434A>T NP_001182732.1:p.Asn145Ile
XM_011528010.1:c.815A>T XP_011526312.1:p.Asn272Ile
XM_011528011.1:c.434A>T XP_011526313.1:p.Asn145Ile
XR_244074.2:n.965A>T
XM_011528010.2:c.815A>T XP_011526312.1:p.Asn272Ile
XR_001753685.2:n.932A>T
XR_001753686.2:n.932A>T
NM_000527.5:c.815A>T MANE Select NP_000518.1:p.Asn272Ile
NM_001195798.2:c.815A>T NP_001182727.1:p.Asn272Ile
NM_001195799.2:c.692A>T NP_001182728.1:p.Asn231Ile
NM_001195800.2:c.314-707A>T NP_001182729.1:n.314-707A>T
NM_001195803.2:c.434A>T NP_001182732.1:p.Asn145Ile
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