Canonical Allele Identifier: CA913189003
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 628061
ClinVar RCV Id: RCV000772359
dbSNP Id: rs200201131

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120357T>C , CM000681.2:g.11120357T>C GRCh38
NC_000019.9:g.11231033T>C , CM000681.1:g.11231033T>C GRCh37
NC_000019.8:g.11092033T>C NCBI36
NG_009060.1:g.35977T>C , LRG_274:g.35977T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2246-13T>C ENSP00000252444.6:n.2246-13T>C
ENST00000559340.2:c.*57-13T>C ENSP00000453696.2:n.*57-13T>C
ENST00000560467.2:c.1868-13T>C ENSP00000453513.2:n.1868-13T>C
ENST00000558518.6:c.1988-13T>C MANE Select ENSP00000454071.1:n.1988-13T>C
ENST00000252444.9:c.2242-13T>C
ENST00000455727.6:c.1484-13T>C ENSP00000397829.2:n.1484-13T>C
ENST00000535915.5:c.1865-13T>C ENSP00000440520.1:n.1865-13T>C
ENST00000545707.5:c.1606+124T>C ENSP00000437639.1:n.1606+124T>C
ENST00000557933.5:c.1988-13T>C ENSP00000453557.1:n.1988-13T>C
ENST00000558013.5:c.1988-13T>C ENSP00000453346.1:n.1988-13T>C
ENST00000558518.5:c.1988-13T>C ENSP00000454071.1:n.1988-13T>C
ENST00000559340.1:c.569-13T>C
NM_000527.4:c.1988-13T>C , LRG_274t1:c.1988-13T>C NP_000518.1:n.1988-13T>C
NM_001195798.1:c.1988-13T>C NP_001182727.1:n.1988-13T>C
NM_001195799.1:c.1865-13T>C NP_001182728.1:n.1865-13T>C
NM_001195800.1:c.1484-13T>C NP_001182729.1:n.1484-13T>C
NM_001195803.1:c.1606+124T>C NP_001182732.1:n.1606+124T>C
XM_011528010.1:c.1988-13T>C XP_011526312.1:n.1988-13T>C
XM_011528011.1:c.1607-13T>C XP_011526313.1:n.1607-13T>C
XR_244074.2:n.1998-13T>C
XM_011528010.2:c.1988-13T>C XP_011526312.1:n.1988-13T>C
XR_001753685.2:n.2105-13T>C
XR_001753686.2:n.1965-13T>C
NM_000527.5:c.1988-13T>C MANE Select NP_000518.1:n.1988-13T>C
NM_001195798.2:c.1988-13T>C NP_001182727.1:n.1988-13T>C
NM_001195799.2:c.1865-13T>C NP_001182728.1:n.1865-13T>C
NM_001195800.2:c.1484-13T>C NP_001182729.1:n.1484-13T>C
NM_001195803.2:c.1606+124T>C NP_001182732.1:n.1606+124T>C