Canonical Allele Identifier: CA404082733
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441208
ClinVar RCV Id: RCV000509140
dbSNP Id: rs879254754

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110724G>T , CM000681.2:g.11110724G>T GRCh38
NC_000019.9:g.11221400G>T , CM000681.1:g.11221400G>T GRCh37
NC_000019.8:g.11082400G>T NCBI36
NG_009060.1:g.26344G>T , LRG_274:g.26344G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1271G>T ENSP00000252444.6:p.Cys424Phe
ENST00000559340.2:c.1013G>T ENSP00000453696.2:p.Cys338Phe
ENST00000560467.2:c.941-790G>T ENSP00000453513.2:n.941-790G>T
ENST00000558518.6:c.1013G>T MANE Select ENSP00000454071.1:p.Cys338Phe
ENST00000252444.9:c.1267G>T
ENST00000455727.6:c.509G>T ENSP00000397829.2:p.Cys170Phe
ENST00000535915.5:c.890G>T ENSP00000440520.1:p.Cys297Phe
ENST00000545707.5:c.632G>T ENSP00000437639.1:p.Cys211Phe
ENST00000557933.5:c.1013G>T ENSP00000453557.1:p.Cys338Phe
ENST00000558013.5:c.1013G>T ENSP00000453346.1:p.Cys338Phe
ENST00000558518.5:c.1013G>T ENSP00000454071.1:p.Cys338Phe
ENST00000560173.1:n.12G>T
ENST00000560467.1:c.541-790G>T
NM_000527.4:c.1013G>T , LRG_274t1:c.1013G>T NP_000518.1:p.Cys338Phe
NM_001195798.1:c.1013G>T NP_001182727.1:p.Cys338Phe
NM_001195799.1:c.890G>T NP_001182728.1:p.Cys297Phe
NM_001195800.1:c.509G>T NP_001182729.1:p.Cys170Phe
NM_001195803.1:c.632G>T NP_001182732.1:p.Cys211Phe
XM_011528010.1:c.1013G>T XP_011526312.1:p.Cys338Phe
XM_011528011.1:c.632G>T XP_011526313.1:p.Cys211Phe
XR_244074.2:n.1163G>T
XM_011528010.2:c.1013G>T XP_011526312.1:p.Cys338Phe
XR_001753685.2:n.1130G>T
XR_001753686.2:n.1130G>T
NM_000527.5:c.1013G>T MANE Select NP_000518.1:p.Cys338Phe
NM_001195798.2:c.1013G>T NP_001182727.1:p.Cys338Phe
NM_001195799.2:c.890G>T NP_001182728.1:p.Cys297Phe
NM_001195800.2:c.509G>T NP_001182729.1:p.Cys170Phe
NM_001195803.2:c.632G>T NP_001182732.1:p.Cys211Phe