Canonical Allele Identifier: CA037227
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252083
dbSNP Id: rs747134711

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120101T>C , CM000681.2:g.11120101T>C GRCh38
NC_000019.9:g.11230777T>C , CM000681.1:g.11230777T>C GRCh37
NC_000019.8:g.11091777T>C NCBI36
NG_009060.1:g.35721T>C , LRG_274:g.35721T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.6:c.1855T>C MANE Select ENSP00000454071.1:p.Phe619Leu
ENST00000252444.9:n.2109T>C
ENST00000455727.6:c.1351T>C ENSP00000397829.2:p.Phe451Leu
ENST00000535915.5:c.1732T>C ENSP00000440520.1:p.Phe578Leu
ENST00000545707.5:c.1474T>C ENSP00000437639.1:p.Phe492Leu
ENST00000557933.5:c.1855T>C ENSP00000453557.1:p.Phe619Leu
ENST00000558013.5:c.1855T>C ENSP00000453346.1:p.Phe619Leu
ENST00000558518.5:c.1855T>C ENSP00000454071.1:p.Phe619Leu
ENST00000559340.1:n.436T>C
NM_000527.4:c.1855T>C , LRG_274t1:c.1855T>C NP_000518.1:p.Phe619Leu
NM_001195798.1:c.1855T>C NP_001182727.1:p.Phe619Leu
NM_001195799.1:c.1732T>C NP_001182728.1:p.Phe578Leu
NM_001195800.1:c.1351T>C NP_001182729.1:p.Phe451Leu
NM_001195803.1:c.1474T>C NP_001182732.1:p.Phe492Leu
XM_011528010.1:c.1855T>C XP_011526312.1:p.Phe619Leu
XM_011528011.1:c.1474T>C XP_011526313.1:p.Phe492Leu
XR_244074.2:n.1865T>C
XM_011528010.2:c.1855T>C XP_011526312.1:p.Phe619Leu
XR_001753685.2:n.1972T>C
XR_001753686.2:n.1832T>C
NM_000527.5:c.1855T>C MANE Select NP_000518.1:p.Phe619Leu
NM_001195798.2:c.1855T>C NP_001182727.1:p.Phe619Leu
NM_001195799.2:c.1732T>C NP_001182728.1:p.Phe578Leu
NM_001195800.2:c.1351T>C NP_001182729.1:p.Phe451Leu
NM_001195803.2:c.1474T>C NP_001182732.1:p.Phe492Leu