Canonical Allele Identifier: CA404082701
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11221382T>A (hg19) chr19:g.11110706T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110706T>A , CM000681.2:g.11110706T>A GRCh38
NC_000019.9:g.11221382T>A , CM000681.1:g.11221382T>A GRCh37
NC_000019.8:g.11082382T>A NCBI36
NG_009060.1:g.26326T>A , LRG_274:g.26326T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1253T>A ENSP00000252444.6:p.Leu418His
ENST00000559340.2:c.995T>A ENSP00000453696.2:p.Leu332His
ENST00000560467.2:c.941-808T>A ENSP00000453513.2:n.941-808T>A
ENST00000558518.6:c.995T>A MANE Select ENSP00000454071.1:p.Leu332His
ENST00000252444.9:c.1249T>A
ENST00000455727.6:c.491T>A ENSP00000397829.2:p.Leu164His
ENST00000535915.5:c.872T>A ENSP00000440520.1:p.Leu291His
ENST00000545707.5:c.614T>A ENSP00000437639.1:p.Leu205His
ENST00000557933.5:c.995T>A ENSP00000453557.1:p.Leu332His
ENST00000558013.5:c.995T>A ENSP00000453346.1:p.Leu332His
ENST00000558518.5:c.995T>A ENSP00000454071.1:p.Leu332His
ENST00000560467.1:c.541-808T>A
NM_000527.4:c.995T>A , LRG_274t1:c.995T>A NP_000518.1:p.Leu332His
NM_001195798.1:c.995T>A NP_001182727.1:p.Leu332His
NM_001195799.1:c.872T>A NP_001182728.1:p.Leu291His
NM_001195800.1:c.491T>A NP_001182729.1:p.Leu164His
NM_001195803.1:c.614T>A NP_001182732.1:p.Leu205His
XM_011528010.1:c.995T>A XP_011526312.1:p.Leu332His
XM_011528011.1:c.614T>A XP_011526313.1:p.Leu205His
XR_244074.2:n.1145T>A
XM_011528010.2:c.995T>A XP_011526312.1:p.Leu332His
XR_001753685.2:n.1112T>A
XR_001753686.2:n.1112T>A
NM_000527.5:c.995T>A MANE Select NP_000518.1:p.Leu332His
NM_001195798.2:c.995T>A NP_001182727.1:p.Leu332His
NM_001195799.2:c.872T>A NP_001182728.1:p.Leu291His
NM_001195800.2:c.491T>A NP_001182729.1:p.Leu164His
NM_001195803.2:c.614T>A NP_001182732.1:p.Leu205His
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