Canonical Allele Identifier: CA404082657
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3068595
ClinVar RCV Id: RCV003994664
gnomAD v4: 19-11110682-G-T
MyVariant Identifiers: chr19:g.11221358G>T (hg19) chr19:g.11110682G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110682G>T , CM000681.2:g.11110682G>T GRCh38
NC_000019.9:g.11221358G>T , CM000681.1:g.11221358G>T GRCh37
NC_000019.8:g.11082358G>T NCBI36
NG_009060.1:g.26302G>T , LRG_274:g.26302G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1229G>T ENSP00000252444.6:p.Gly410Val
ENST00000559340.2:c.971G>T ENSP00000453696.2:p.Gly324Val
ENST00000560467.2:c.941-832G>T ENSP00000453513.2:n.941-832G>T
ENST00000558518.6:c.971G>T MANE Select ENSP00000454071.1:p.Gly324Val
ENST00000252444.9:c.1225G>T
ENST00000455727.6:c.467G>T ENSP00000397829.2:p.Gly156Val
ENST00000535915.5:c.848G>T ENSP00000440520.1:p.Gly283Val
ENST00000545707.5:c.590G>T ENSP00000437639.1:p.Gly197Val
ENST00000557933.5:c.971G>T ENSP00000453557.1:p.Gly324Val
ENST00000558013.5:c.971G>T ENSP00000453346.1:p.Gly324Val
ENST00000558518.5:c.971G>T ENSP00000454071.1:p.Gly324Val
ENST00000560467.1:c.541-832G>T
NM_000527.4:c.971G>T , LRG_274t1:c.971G>T NP_000518.1:p.Gly324Val
NM_001195798.1:c.971G>T NP_001182727.1:p.Gly324Val
NM_001195799.1:c.848G>T NP_001182728.1:p.Gly283Val
NM_001195800.1:c.467G>T NP_001182729.1:p.Gly156Val
NM_001195803.1:c.590G>T NP_001182732.1:p.Gly197Val
XM_011528010.1:c.971G>T XP_011526312.1:p.Gly324Val
XM_011528011.1:c.590G>T XP_011526313.1:p.Gly197Val
XR_244074.2:n.1121G>T
XM_011528010.2:c.971G>T XP_011526312.1:p.Gly324Val
XR_001753685.2:n.1088G>T
XR_001753686.2:n.1088G>T
NM_000527.5:c.971G>T MANE Select NP_000518.1:p.Gly324Val
NM_001195798.2:c.971G>T NP_001182727.1:p.Gly324Val
NM_001195799.2:c.848G>T NP_001182728.1:p.Gly283Val
NM_001195800.2:c.467G>T NP_001182729.1:p.Gly156Val
NM_001195803.2:c.590G>T NP_001182732.1:p.Gly197Val
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