Canonical Allele Identifier: CA404093221
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2152309
ClinVar RCV Id: RCV003079228

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120209T>C , CM000681.2:g.11120209T>C GRCh38
NC_000019.9:g.11230885T>C , CM000681.1:g.11230885T>C GRCh37
NC_000019.8:g.11091885T>C NCBI36
NG_009060.1:g.35829T>C , LRG_274:g.35829T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2221T>C ENSP00000252444.6:p.Phe741Leu
ENST00000559340.2:c.*32T>C ENSP00000453696.2:n.*32T>C
ENST00000560467.2:c.1843T>C ENSP00000453513.2:p.Phe615Leu
ENST00000558518.6:c.1963T>C MANE Select ENSP00000454071.1:p.Phe655Leu
ENST00000252444.9:c.2217T>C
ENST00000455727.6:c.1459T>C ENSP00000397829.2:p.Phe487Leu
ENST00000535915.5:c.1840T>C ENSP00000440520.1:p.Phe614Leu
ENST00000545707.5:c.1582T>C ENSP00000437639.1:p.Phe528Leu
ENST00000557933.5:c.1963T>C ENSP00000453557.1:p.Phe655Leu
ENST00000558013.5:c.1963T>C ENSP00000453346.1:p.Phe655Leu
ENST00000558518.5:c.1963T>C ENSP00000454071.1:p.Phe655Leu
ENST00000559340.1:c.544T>C
NM_000527.4:c.1963T>C , LRG_274t1:c.1963T>C NP_000518.1:p.Phe655Leu
NM_001195798.1:c.1963T>C NP_001182727.1:p.Phe655Leu
NM_001195799.1:c.1840T>C NP_001182728.1:p.Phe614Leu
NM_001195800.1:c.1459T>C NP_001182729.1:p.Phe487Leu
NM_001195803.1:c.1582T>C NP_001182732.1:p.Phe528Leu
XM_011528010.1:c.1963T>C XP_011526312.1:p.Phe655Leu
XM_011528011.1:c.1582T>C XP_011526313.1:p.Phe528Leu
XR_244074.2:n.1973T>C
XM_011528010.2:c.1963T>C XP_011526312.1:p.Phe655Leu
XR_001753685.2:n.2080T>C
XR_001753686.2:n.1940T>C
NM_000527.5:c.1963T>C MANE Select NP_000518.1:p.Phe655Leu
NM_001195798.2:c.1963T>C NP_001182727.1:p.Phe655Leu
NM_001195799.2:c.1840T>C NP_001182728.1:p.Phe614Leu
NM_001195800.2:c.1459T>C NP_001182729.1:p.Phe487Leu
NM_001195803.2:c.1582T>C NP_001182732.1:p.Phe528Leu