Canonical Allele Identifier: CA10584948
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251256
dbSNP Id: rs879254548

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105406G>A , CM000681.2:g.11105406G>A GRCh38
NC_000019.9:g.11216082G>A , CM000681.1:g.11216082G>A GRCh37
NC_000019.8:g.11077082G>A NCBI36
NG_009060.1:g.21026G>A , LRG_274:g.21026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.758G>A ENSP00000252444.6:p.Cys253Tyr
ENST00000559340.2:c.500G>A ENSP00000453696.2:p.Cys167Tyr
ENST00000560467.2:c.500G>A ENSP00000453513.2:p.Cys167Tyr
ENST00000558518.6:c.500G>A MANE Select ENSP00000454071.1:p.Cys167Tyr
ENST00000252444.9:c.754G>A
ENST00000455727.6:c.314-1986G>A ENSP00000397829.2:n.314-1986G>A
ENST00000535915.5:c.377G>A ENSP00000440520.1:p.Cys126Tyr
ENST00000545707.5:c.314-1159G>A ENSP00000437639.1:n.314-1159G>A
ENST00000557933.5:c.500G>A ENSP00000453557.1:p.Cys167Tyr
ENST00000558013.5:c.500G>A ENSP00000453346.1:p.Cys167Tyr
ENST00000558518.5:c.500G>A ENSP00000454071.1:p.Cys167Tyr
ENST00000560467.1:c.100G>A
NM_000527.4:c.500G>A , LRG_274t1:c.500G>A NP_000518.1:p.Cys167Tyr
NM_001195798.1:c.500G>A NP_001182727.1:p.Cys167Tyr
NM_001195799.1:c.377G>A NP_001182728.1:p.Cys126Tyr
NM_001195800.1:c.314-1986G>A NP_001182729.1:n.314-1986G>A
NM_001195803.1:c.314-1159G>A NP_001182732.1:n.314-1159G>A
XM_011528010.1:c.500G>A XP_011526312.1:p.Cys167Tyr
XM_011528011.1:c.314-1159G>A XP_011526313.1:n.314-1159G>A
XR_244074.2:n.650G>A
XM_011528010.2:c.500G>A XP_011526312.1:p.Cys167Tyr
XR_001753685.2:n.617G>A
XR_001753686.2:n.617G>A
NM_000527.5:c.500G>A MANE Select NP_000518.1:p.Cys167Tyr
NM_001195798.2:c.500G>A NP_001182727.1:p.Cys167Tyr
NM_001195799.2:c.377G>A NP_001182728.1:p.Cys126Tyr
NM_001195800.2:c.314-1986G>A NP_001182729.1:n.314-1986G>A
NM_001195803.2:c.314-1159G>A NP_001182732.1:n.314-1159G>A