Canonical Allele Identifier: CA404083961
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321228
ClinVar RCV Id: RCV002227555
dbSNP Id: rs2147241974

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111631A>C , CM000681.2:g.11111631A>C GRCh38
NC_000019.9:g.11222307A>C , CM000681.1:g.11222307A>C GRCh37
NC_000019.8:g.11083307A>C NCBI36
NG_009060.1:g.27251A>C , LRG_274:g.27251A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1436A>C ENSP00000252444.6:p.Lys479Thr
ENST00000559340.2:c.1178A>C ENSP00000453696.2:p.Lys393Thr
ENST00000560467.2:c.1058A>C ENSP00000453513.2:p.Lys353Thr
ENST00000558518.6:c.1178A>C MANE Select ENSP00000454071.1:p.Lys393Thr
ENST00000252444.9:c.1432A>C
ENST00000455727.6:c.674A>C ENSP00000397829.2:p.Lys225Thr
ENST00000535915.5:c.1055A>C ENSP00000440520.1:p.Lys352Thr
ENST00000545707.5:c.797A>C ENSP00000437639.1:p.Lys266Thr
ENST00000557933.5:c.1178A>C ENSP00000453557.1:p.Lys393Thr
ENST00000558013.5:c.1178A>C ENSP00000453346.1:p.Lys393Thr
ENST00000558518.5:c.1178A>C ENSP00000454071.1:p.Lys393Thr
ENST00000560173.1:n.177A>C
ENST00000560467.1:c.658A>C
NM_000527.4:c.1178A>C , LRG_274t1:c.1178A>C NP_000518.1:p.Lys393Thr
NM_001195798.1:c.1178A>C NP_001182727.1:p.Lys393Thr
NM_001195799.1:c.1055A>C NP_001182728.1:p.Lys352Thr
NM_001195800.1:c.674A>C NP_001182729.1:p.Lys225Thr
NM_001195803.1:c.797A>C NP_001182732.1:p.Lys266Thr
XM_011528010.1:c.1178A>C XP_011526312.1:p.Lys393Thr
XM_011528011.1:c.797A>C XP_011526313.1:p.Lys266Thr
XR_244074.2:n.1328A>C
XM_011528010.2:c.1178A>C XP_011526312.1:p.Lys393Thr
XR_001753685.2:n.1295A>C
XR_001753686.2:n.1295A>C
NM_000527.5:c.1178A>C MANE Select NP_000518.1:p.Lys393Thr
NM_001195798.2:c.1178A>C NP_001182727.1:p.Lys393Thr
NM_001195799.2:c.1055A>C NP_001182728.1:p.Lys352Thr
NM_001195800.2:c.674A>C NP_001182729.1:p.Lys225Thr
NM_001195803.2:c.797A>C NP_001182732.1:p.Lys266Thr