Canonical Allele Identifier: CA10585779
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252226
ClinVar RCV Id: RCV000238580
dbSNP Id: rs879255142

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120501G>T , CM000681.2:g.11120501G>T GRCh38
NC_000019.9:g.11231177G>T , CM000681.1:g.11231177G>T GRCh37
NC_000019.8:g.11092177G>T NCBI36
NG_009060.1:g.36121G>T , LRG_274:g.36121G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2377G>T ENSP00000252444.6:p.Asp793Tyr
ENST00000559340.2:c.*188G>T ENSP00000453696.2:n.*188G>T
ENST00000560467.2:c.1999G>T ENSP00000453513.2:p.Asp667Tyr
ENST00000558518.6:c.2119G>T MANE Select ENSP00000454071.1:p.Asp707Tyr
ENST00000252444.9:c.2373G>T
ENST00000455727.6:c.1615G>T ENSP00000397829.2:p.Asp539Tyr
ENST00000535915.5:c.1996G>T ENSP00000440520.1:p.Asp666Tyr
ENST00000545707.5:c.1606+268G>T ENSP00000437639.1:n.1606+268G>T
ENST00000557933.5:c.2119G>T ENSP00000453557.1:p.Asp707Tyr
ENST00000558013.5:c.2119G>T ENSP00000453346.1:p.Asp707Tyr
ENST00000558518.5:c.2119G>T ENSP00000454071.1:p.Asp707Tyr
NM_000527.4:c.2119G>T , LRG_274t1:c.2119G>T NP_000518.1:p.Asp707Tyr
NM_001195798.1:c.2119G>T NP_001182727.1:p.Asp707Tyr
NM_001195799.1:c.1996G>T NP_001182728.1:p.Asp666Tyr
NM_001195800.1:c.1615G>T NP_001182729.1:p.Asp539Tyr
NM_001195803.1:c.1606+268G>T NP_001182732.1:n.1606+268G>T
XM_011528010.1:c.2119G>T XP_011526312.1:p.Asp707Tyr
XM_011528011.1:c.1738G>T XP_011526313.1:p.Asp580Tyr
XR_244074.2:n.2129G>T
XM_011528010.2:c.2119G>T XP_011526312.1:p.Asp707Tyr
XR_001753685.2:n.2236G>T
XR_001753686.2:n.2096G>T
NM_000527.5:c.2119G>T MANE Select NP_000518.1:p.Asp707Tyr
NM_001195798.2:c.2119G>T NP_001182727.1:p.Asp707Tyr
NM_001195799.2:c.1996G>T NP_001182728.1:p.Asp666Tyr
NM_001195800.2:c.1615G>T NP_001182729.1:p.Asp539Tyr
NM_001195803.2:c.1606+268G>T NP_001182732.1:n.1606+268G>T