Canonical Allele Identifier: CA305307753
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs929520111
gnomAD v2: 19-11238099-C-T
gnomAD v3: 19-11127423-C-T
gnomAD v4: 19-11127423-C-T
MyVariant Identifiers: chr19:g.11238099C>T (hg19) chr19:g.11127423C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11127423C>T , CM000681.2:g.11127423C>T GRCh38
NC_000019.9:g.11238099C>T , CM000681.1:g.11238099C>T GRCh37
NC_000019.8:g.11099099C>T NCBI36
NG_009060.1:g.43043C>T , LRG_274:g.43043C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2570-585C>T ENSP00000252444.6:n.2570-585C>T
ENST00000559340.2:c.*381-585C>T ENSP00000453696.2:n.*381-585C>T
ENST00000560467.2:c.2192-585C>T ENSP00000453513.2:n.2192-585C>T
ENST00000558518.6:c.2312-585C>T MANE Select ENSP00000454071.1:n.2312-585C>T
ENST00000252444.9:c.2566-585C>T
ENST00000455727.6:c.1808-585C>T ENSP00000397829.2:n.1808-585C>T
ENST00000535915.5:c.2189-585C>T ENSP00000440520.1:n.2189-585C>T
ENST00000545707.5:c.1778-585C>T ENSP00000437639.1:n.1778-585C>T
ENST00000557933.5:c.2312-585C>T ENSP00000453557.1:n.2312-585C>T
ENST00000558013.5:c.2312-585C>T ENSP00000453346.1:n.2312-585C>T
ENST00000558518.5:c.2312-585C>T ENSP00000454071.1:n.2312-585C>T
NM_000527.4:c.2312-585C>T , LRG_274t1:c.2312-585C>T NP_000518.1:n.2312-585C>T
NM_001195798.1:c.2312-585C>T NP_001182727.1:n.2312-585C>T
NM_001195799.1:c.2189-585C>T NP_001182728.1:n.2189-585C>T
NM_001195800.1:c.1808-585C>T NP_001182729.1:n.1808-585C>T
NM_001195803.1:c.1778-585C>T NP_001182732.1:n.1778-585C>T
XM_011528010.1:c.2312-2090C>T XP_011526312.1:n.2312-2090C>T
XM_011528011.1:c.1931-585C>T XP_011526313.1:n.1931-585C>T
XR_244074.2:n.2322-585C>T
XM_011528010.2:c.2312-2090C>T XP_011526312.1:n.2312-2090C>T
XR_001753685.2:n.2646-585C>T
XR_001753686.2:n.2289-585C>T
NM_000527.5:c.2312-585C>T MANE Select NP_000518.1:n.2312-585C>T
NM_001195798.2:c.2312-585C>T NP_001182727.1:n.2312-585C>T
NM_001195799.2:c.2189-585C>T NP_001182728.1:n.2189-585C>T
NM_001195800.2:c.1808-585C>T NP_001182729.1:n.1808-585C>T
NM_001195803.2:c.1778-585C>T NP_001182732.1:n.1778-585C>T
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