Canonical Allele Identifier: CA10576318
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226372
dbSNP Id: rs875989930

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116898T>C , CM000681.2:g.11116898T>C GRCh38
NC_000019.9:g.11227574T>C , CM000681.1:g.11227574T>C GRCh37
NC_000019.8:g.11088574T>C NCBI36
NG_009060.1:g.32518T>C , LRG_274:g.32518T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2003T>C ENSP00000252444.6:p.Leu668Pro
ENST00000559340.2:c.1705+686T>C ENSP00000453696.2:n.1705+686T>C
ENST00000560467.2:c.1625T>C ENSP00000453513.2:p.Leu542Pro
ENST00000558518.6:c.1745T>C MANE Select ENSP00000454071.1:p.Leu582Pro
ENST00000252444.9:c.1999T>C
ENST00000455727.6:c.1241T>C ENSP00000397829.2:p.Leu414Pro
ENST00000535915.5:c.1622T>C ENSP00000440520.1:p.Leu541Pro
ENST00000545707.5:c.1364T>C ENSP00000437639.1:p.Leu455Pro
ENST00000557933.5:c.1745T>C ENSP00000453557.1:p.Leu582Pro
ENST00000558013.5:c.1745T>C ENSP00000453346.1:p.Leu582Pro
ENST00000558518.5:c.1745T>C ENSP00000454071.1:p.Leu582Pro
ENST00000559340.1:c.426+686T>C
NM_000527.4:c.1745T>C , LRG_274t1:c.1745T>C NP_000518.1:p.Leu582Pro
NM_001195798.1:c.1745T>C NP_001182727.1:p.Leu582Pro
NM_001195799.1:c.1622T>C NP_001182728.1:p.Leu541Pro
NM_001195800.1:c.1241T>C NP_001182729.1:p.Leu414Pro
NM_001195803.1:c.1364T>C NP_001182732.1:p.Leu455Pro
XM_011528010.1:c.1745T>C XP_011526312.1:p.Leu582Pro
XM_011528011.1:c.1364T>C XP_011526313.1:p.Leu455Pro
XR_244074.2:n.1855+686T>C
XM_011528010.2:c.1745T>C XP_011526312.1:p.Leu582Pro
XR_001753685.2:n.1862T>C
XR_001753686.2:n.1822+686T>C
NM_000527.5:c.1745T>C MANE Select NP_000518.1:p.Leu582Pro
NM_001195798.2:c.1745T>C NP_001182727.1:p.Leu582Pro
NM_001195799.2:c.1622T>C NP_001182728.1:p.Leu541Pro
NM_001195800.2:c.1241T>C NP_001182729.1:p.Leu414Pro
NM_001195803.2:c.1364T>C NP_001182732.1:p.Leu455Pro