Canonical Allele Identifier: CA305298507
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2183327
ClinVar RCV Id: RCV002592473
dbSNP Id: rs996181498

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107385C>A , CM000681.2:g.11107385C>A GRCh38
NC_000019.9:g.11218061C>A , CM000681.1:g.11218061C>A GRCh37
NC_000019.8:g.11079061C>A NCBI36
NG_009060.1:g.23005C>A , LRG_274:g.23005C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1076-7C>A ENSP00000252444.6:n.1076-7C>A
ENST00000559340.2:c.818-7C>A ENSP00000453696.2:n.818-7C>A
ENST00000560467.2:c.818-7C>A ENSP00000453513.2:n.818-7C>A
ENST00000558518.6:c.818-7C>A MANE Select ENSP00000454071.1:n.818-7C>A
ENST00000252444.9:c.1072-7C>A
ENST00000455727.6:c.314-7C>A ENSP00000397829.2:n.314-7C>A
ENST00000535915.5:c.695-7C>A ENSP00000440520.1:n.695-7C>A
ENST00000545707.5:c.437-7C>A ENSP00000437639.1:n.437-7C>A
ENST00000557933.5:c.818-7C>A ENSP00000453557.1:n.818-7C>A
ENST00000558013.5:c.818-7C>A ENSP00000453346.1:n.818-7C>A
ENST00000558518.5:c.818-7C>A ENSP00000454071.1:n.818-7C>A
ENST00000558528.1:n.333-7C>A
ENST00000560467.1:c.418-7C>A
NM_000527.4:c.818-7C>A , LRG_274t1:c.818-7C>A NP_000518.1:n.818-7C>A
NM_001195798.1:c.818-7C>A NP_001182727.1:n.818-7C>A
NM_001195799.1:c.695-7C>A NP_001182728.1:n.695-7C>A
NM_001195800.1:c.314-7C>A NP_001182729.1:n.314-7C>A
NM_001195803.1:c.437-7C>A NP_001182732.1:n.437-7C>A
XM_011528010.1:c.818-7C>A XP_011526312.1:n.818-7C>A
XM_011528011.1:c.437-7C>A XP_011526313.1:n.437-7C>A
XR_244074.2:n.968-7C>A
XM_011528010.2:c.818-7C>A XP_011526312.1:n.818-7C>A
XR_001753685.2:n.935-7C>A
XR_001753686.2:n.935-7C>A
NM_000527.5:c.818-7C>A MANE Select NP_000518.1:n.818-7C>A
NM_001195798.2:c.818-7C>A NP_001182727.1:n.818-7C>A
NM_001195799.2:c.695-7C>A NP_001182728.1:n.695-7C>A
NM_001195800.2:c.314-7C>A NP_001182729.1:n.314-7C>A
NM_001195803.2:c.437-7C>A NP_001182732.1:n.437-7C>A