Canonical Allele Identifier: CA2322775693
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2077536856

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120577G>T , CM000681.2:g.11120577G>T GRCh38
NC_000019.9:g.11231253G>T , CM000681.1:g.11231253G>T GRCh37
NC_000019.8:g.11092253G>T NCBI36
NG_009060.1:g.36197G>T , LRG_274:g.36197G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2398+55G>T ENSP00000252444.6:n.2398+55G>T
ENST00000559340.2:c.*209+55G>T ENSP00000453696.2:n.*209+55G>T
ENST00000560467.2:c.2020+55G>T ENSP00000453513.2:n.2020+55G>T
ENST00000558518.6:c.2140+55G>T MANE Select ENSP00000454071.1:n.2140+55G>T
ENST00000252444.9:c.2394+55G>T
ENST00000455727.6:c.1636+55G>T ENSP00000397829.2:n.1636+55G>T
ENST00000535915.5:c.2017+55G>T ENSP00000440520.1:n.2017+55G>T
ENST00000545707.5:c.1606+344G>T ENSP00000437639.1:n.1606+344G>T
ENST00000557933.5:c.2140+55G>T ENSP00000453557.1:n.2140+55G>T
ENST00000558013.5:c.2140+55G>T ENSP00000453346.1:n.2140+55G>T
ENST00000558518.5:c.2140+55G>T ENSP00000454071.1:n.2140+55G>T
NM_000527.4:c.2140+55G>T , LRG_274t1:c.2140+55G>T NP_000518.1:n.2140+55G>T
NM_001195798.1:c.2140+55G>T NP_001182727.1:n.2140+55G>T
NM_001195799.1:c.2017+55G>T NP_001182728.1:n.2017+55G>T
NM_001195800.1:c.1636+55G>T NP_001182729.1:n.1636+55G>T
NM_001195803.1:c.1606+344G>T NP_001182732.1:n.1606+344G>T
XM_011528010.1:c.2140+55G>T XP_011526312.1:n.2140+55G>T
XM_011528011.1:c.1759+55G>T XP_011526313.1:n.1759+55G>T
XR_244074.2:n.2150+55G>T
XM_011528010.2:c.2140+55G>T XP_011526312.1:n.2140+55G>T
XR_001753685.2:n.2312G>T
XR_001753686.2:n.2117+55G>T
NM_000527.5:c.2140+55G>T MANE Select NP_000518.1:n.2140+55G>T
NM_001195798.2:c.2140+55G>T NP_001182727.1:n.2140+55G>T
NM_001195799.2:c.2017+55G>T NP_001182728.1:n.2017+55G>T
NM_001195800.2:c.1636+55G>T NP_001182729.1:n.1636+55G>T
NM_001195803.2:c.1606+344G>T NP_001182732.1:n.1606+344G>T