Canonical Allele Identifier: CA404098819
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 979144
ClinVar RCV Id: RCV001258218
dbSNP Id: rs2077687532

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129567T>A , CM000681.2:g.11129567T>A GRCh38
NC_000019.9:g.11240243T>A , CM000681.1:g.11240243T>A GRCh37
NC_000019.8:g.11101243T>A NCBI36
NG_009060.1:g.45187T>A , LRG_274:g.45187T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2702T>A ENSP00000252444.6:p.Leu901His
ENST00000559340.2:c.*513T>A ENSP00000453696.2:n.*513T>A
ENST00000560467.2:c.2324T>A ENSP00000453513.2:p.Leu775His
ENST00000558518.6:c.2444T>A MANE Select ENSP00000454071.1:p.Leu815His
ENST00000252444.9:c.2698T>A
ENST00000455727.6:c.1940T>A ENSP00000397829.2:p.Leu647His
ENST00000535915.5:c.2321T>A ENSP00000440520.1:p.Leu774His
ENST00000545707.5:c.1910T>A ENSP00000437639.1:p.Leu637His
ENST00000557933.5:c.2506T>A ENSP00000453557.1:p.Leu836Ile
ENST00000558013.5:c.2444T>A ENSP00000453346.1:p.Leu815His
ENST00000558518.5:c.2444T>A ENSP00000454071.1:p.Leu815His
ENST00000560628.1:n.108+1913T>A
NM_000527.4:c.2444T>A , LRG_274t1:c.2444T>A NP_000518.1:p.Leu815His
NM_001195798.1:c.2444T>A NP_001182727.1:p.Leu815His
NM_001195799.1:c.2321T>A NP_001182728.1:p.Leu774His
NM_001195800.1:c.1940T>A NP_001182729.1:p.Leu647His
NM_001195803.1:c.1910T>A NP_001182732.1:p.Leu637His
XM_011528010.1:c.2366T>A XP_011526312.1:p.Leu789His
XM_011528011.1:c.2063T>A XP_011526313.1:p.Leu688His
XR_244074.2:n.2454T>A
XM_011528010.2:c.2366T>A XP_011526312.1:p.Leu789His
XR_001753685.2:n.2778T>A
XR_001753686.2:n.2421T>A
NM_000527.5:c.2444T>A MANE Select NP_000518.1:p.Leu815His
NM_001195798.2:c.2444T>A NP_001182727.1:p.Leu815His
NM_001195799.2:c.2321T>A NP_001182728.1:p.Leu774His
NM_001195800.2:c.1940T>A NP_001182729.1:p.Leu647His
NM_001195803.2:c.1910T>A NP_001182732.1:p.Leu637His