Canonical Allele Identifier: CA505485334
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2818687
ClinVar RCV Id: RCV003741814
gnomAD v4: 19-11110686-T-C
MyVariant Identifiers: chr19:g.11221362T>C (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1233T>C ENSP00000252444.6:p.Cys411=
ENST00000559340.2:c.975T>C ENSP00000453696.2:p.Cys325=
ENST00000560467.2:c.941-828T>C ENSP00000453513.2:n.941-828T>C
ENST00000558518.6:c.975T>C MANE Select ENSP00000454071.1:p.Cys325=
ENST00000252444.9:c.1229T>C
ENST00000455727.6:c.471T>C ENSP00000397829.2:p.Cys157=
ENST00000535915.5:c.852T>C ENSP00000440520.1:p.Cys284=
ENST00000545707.5:c.594T>C ENSP00000437639.1:p.Cys198=
ENST00000557933.5:c.975T>C ENSP00000453557.1:p.Cys325=
ENST00000558013.5:c.975T>C ENSP00000453346.1:p.Cys325=
ENST00000558518.5:c.975T>C ENSP00000454071.1:p.Cys325=
ENST00000560467.1:c.541-828T>C
NM_000527.4:c.975T>C , LRG_274t1:c.975T>C NP_000518.1:p.Cys325=
NM_001195798.1:c.975T>C NP_001182727.1:p.Cys325=
NM_001195799.1:c.852T>C NP_001182728.1:p.Cys284=
NM_001195800.1:c.471T>C NP_001182729.1:p.Cys157=
NM_001195803.1:c.594T>C NP_001182732.1:p.Cys198=
XM_011528010.1:c.975T>C XP_011526312.1:p.Cys325=
XM_011528011.1:c.594T>C XP_011526313.1:p.Cys198=
XR_244074.2:n.1125T>C
XM_011528010.2:c.975T>C XP_011526312.1:p.Cys325=
XR_001753685.2:n.1092T>C
XR_001753686.2:n.1092T>C
NM_000527.5:c.975T>C MANE Select NP_000518.1:p.Cys325=
NM_001195798.2:c.975T>C NP_001182727.1:p.Cys325=
NM_001195799.2:c.852T>C NP_001182728.1:p.Cys284=
NM_001195800.2:c.471T>C NP_001182729.1:p.Cys157=
NM_001195803.2:c.594T>C NP_001182732.1:p.Cys198=
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