Canonical Allele Identifier: CA404082664
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11221362T>A (hg19) chr19:g.11110686T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110686T>A , CM000681.2:g.11110686T>A GRCh38
NC_000019.9:g.11221362T>A , CM000681.1:g.11221362T>A GRCh37
NC_000019.8:g.11082362T>A NCBI36
NG_009060.1:g.26306T>A , LRG_274:g.26306T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1233T>A ENSP00000252444.6:p.Cys411Ter
ENST00000559340.2:c.975T>A ENSP00000453696.2:p.Cys325Ter
ENST00000560467.2:c.941-828T>A ENSP00000453513.2:n.941-828T>A
ENST00000558518.6:c.975T>A MANE Select ENSP00000454071.1:p.Cys325Ter
ENST00000252444.9:c.1229T>A
ENST00000455727.6:c.471T>A ENSP00000397829.2:p.Cys157Ter
ENST00000535915.5:c.852T>A ENSP00000440520.1:p.Cys284Ter
ENST00000545707.5:c.594T>A ENSP00000437639.1:p.Cys198Ter
ENST00000557933.5:c.975T>A ENSP00000453557.1:p.Cys325Ter
ENST00000558013.5:c.975T>A ENSP00000453346.1:p.Cys325Ter
ENST00000558518.5:c.975T>A ENSP00000454071.1:p.Cys325Ter
ENST00000560467.1:c.541-828T>A
NM_000527.4:c.975T>A , LRG_274t1:c.975T>A NP_000518.1:p.Cys325Ter
NM_001195798.1:c.975T>A NP_001182727.1:p.Cys325Ter
NM_001195799.1:c.852T>A NP_001182728.1:p.Cys284Ter
NM_001195800.1:c.471T>A NP_001182729.1:p.Cys157Ter
NM_001195803.1:c.594T>A NP_001182732.1:p.Cys198Ter
XM_011528010.1:c.975T>A XP_011526312.1:p.Cys325Ter
XM_011528011.1:c.594T>A XP_011526313.1:p.Cys198Ter
XR_244074.2:n.1125T>A
XM_011528010.2:c.975T>A XP_011526312.1:p.Cys325Ter
XR_001753685.2:n.1092T>A
XR_001753686.2:n.1092T>A
NM_000527.5:c.975T>A MANE Select NP_000518.1:p.Cys325Ter
NM_001195798.2:c.975T>A NP_001182727.1:p.Cys325Ter
NM_001195799.2:c.852T>A NP_001182728.1:p.Cys284Ter
NM_001195800.2:c.471T>A NP_001182729.1:p.Cys157Ter
NM_001195803.2:c.594T>A NP_001182732.1:p.Cys198Ter
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