Canonical Allele Identifier: CA404083838
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070196
ClinVar RCV Id: RCV004010228

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111613C>A , CM000681.2:g.11111613C>A GRCh38
NC_000019.9:g.11222289C>A , CM000681.1:g.11222289C>A GRCh37
NC_000019.8:g.11083289C>A NCBI36
NG_009060.1:g.27233C>A , LRG_274:g.27233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1418C>A ENSP00000252444.6:p.Pro473His
ENST00000559340.2:c.1160C>A ENSP00000453696.2:p.Pro387His
ENST00000560467.2:c.1040C>A ENSP00000453513.2:p.Pro347His
ENST00000558518.6:c.1160C>A MANE Select ENSP00000454071.1:p.Pro387His
ENST00000252444.9:c.1414C>A
ENST00000455727.6:c.656C>A ENSP00000397829.2:p.Pro219His
ENST00000535915.5:c.1037C>A ENSP00000440520.1:p.Pro346His
ENST00000545707.5:c.779C>A ENSP00000437639.1:p.Pro260His
ENST00000557933.5:c.1160C>A ENSP00000453557.1:p.Pro387His
ENST00000558013.5:c.1160C>A ENSP00000453346.1:p.Pro387His
ENST00000558518.5:c.1160C>A ENSP00000454071.1:p.Pro387His
ENST00000560173.1:n.159C>A
ENST00000560467.1:c.640C>A
NM_000527.4:c.1160C>A , LRG_274t1:c.1160C>A NP_000518.1:p.Pro387His
NM_001195798.1:c.1160C>A NP_001182727.1:p.Pro387His
NM_001195799.1:c.1037C>A NP_001182728.1:p.Pro346His
NM_001195800.1:c.656C>A NP_001182729.1:p.Pro219His
NM_001195803.1:c.779C>A NP_001182732.1:p.Pro260His
XM_011528010.1:c.1160C>A XP_011526312.1:p.Pro387His
XM_011528011.1:c.779C>A XP_011526313.1:p.Pro260His
XR_244074.2:n.1310C>A
XM_011528010.2:c.1160C>A XP_011526312.1:p.Pro387His
XR_001753685.2:n.1277C>A
XR_001753686.2:n.1277C>A
NM_000527.5:c.1160C>A MANE Select NP_000518.1:p.Pro387His
NM_001195798.2:c.1160C>A NP_001182727.1:p.Pro387His
NM_001195799.2:c.1037C>A NP_001182728.1:p.Pro346His
NM_001195800.2:c.656C>A NP_001182729.1:p.Pro219His
NM_001195803.2:c.779C>A NP_001182732.1:p.Pro260His