Canonical Allele Identifier: CA404080312
Gene: LDLR HGNC NCBI

Linked Data

COSMIC: COSM4580608
MyVariant Identifiers: chr19:g.11217362T>A (hg19) chr19:g.11106686T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11106686T>A , CM000681.2:g.11106686T>A GRCh38
NC_000019.9:g.11217362T>A , CM000681.1:g.11217362T>A GRCh37
NC_000019.8:g.11078362T>A NCBI36
NG_009060.1:g.22306T>A , LRG_274:g.22306T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1074T>A ENSP00000252444.6:p.Asn358Lys
ENST00000559340.2:c.816T>A ENSP00000453696.2:p.Asn272Lys
ENST00000560467.2:c.816T>A ENSP00000453513.2:p.Asn272Lys
ENST00000558518.6:c.816T>A MANE Select ENSP00000454071.1:p.Asn272Lys
ENST00000252444.9:c.1070T>A
ENST00000455727.6:c.314-706T>A ENSP00000397829.2:n.314-706T>A
ENST00000535915.5:c.693T>A ENSP00000440520.1:p.Asn231Lys
ENST00000545707.5:c.435T>A ENSP00000437639.1:p.Asn145Lys
ENST00000557933.5:c.816T>A ENSP00000453557.1:p.Asn272Lys
ENST00000558013.5:c.816T>A ENSP00000453346.1:p.Asn272Lys
ENST00000558518.5:c.816T>A ENSP00000454071.1:p.Asn272Lys
ENST00000558528.1:n.331T>A
ENST00000560467.1:c.416T>A
NM_000527.4:c.816T>A , LRG_274t1:c.816T>A NP_000518.1:p.Asn272Lys
NM_001195798.1:c.816T>A NP_001182727.1:p.Asn272Lys
NM_001195799.1:c.693T>A NP_001182728.1:p.Asn231Lys
NM_001195800.1:c.314-706T>A NP_001182729.1:n.314-706T>A
NM_001195803.1:c.435T>A NP_001182732.1:p.Asn145Lys
XM_011528010.1:c.816T>A XP_011526312.1:p.Asn272Lys
XM_011528011.1:c.435T>A XP_011526313.1:p.Asn145Lys
XR_244074.2:n.966T>A
XM_011528010.2:c.816T>A XP_011526312.1:p.Asn272Lys
XR_001753685.2:n.933T>A
XR_001753686.2:n.933T>A
NM_000527.5:c.816T>A MANE Select NP_000518.1:p.Asn272Lys
NM_001195798.2:c.816T>A NP_001182727.1:p.Asn272Lys
NM_001195799.2:c.693T>A NP_001182728.1:p.Asn231Lys
NM_001195800.2:c.314-706T>A NP_001182729.1:n.314-706T>A
NM_001195803.2:c.435T>A NP_001182732.1:p.Asn145Lys
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