Canonical Allele Identifier: CA10585638
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252059
dbSNP Id: rs879255041

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116986G>T , CM000681.2:g.11116986G>T GRCh38
NC_000019.9:g.11227662G>T , CM000681.1:g.11227662G>T GRCh37
NC_000019.8:g.11088662G>T NCBI36
NG_009060.1:g.32606G>T , LRG_274:g.32606G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2091G>T ENSP00000252444.6:p.Leu697Phe
ENST00000559340.2:c.1705+774G>T ENSP00000453696.2:n.1705+774G>T
ENST00000560467.2:c.1713G>T ENSP00000453513.2:p.Leu571Phe
ENST00000558518.6:c.1833G>T MANE Select ENSP00000454071.1:p.Leu611Phe
ENST00000252444.9:c.2087G>T
ENST00000455727.6:c.1329G>T ENSP00000397829.2:p.Leu443Phe
ENST00000535915.5:c.1710G>T ENSP00000440520.1:p.Leu570Phe
ENST00000545707.5:c.1452G>T ENSP00000437639.1:p.Leu484Phe
ENST00000557933.5:c.1833G>T ENSP00000453557.1:p.Leu611Phe
ENST00000558013.5:c.1833G>T ENSP00000453346.1:p.Leu611Phe
ENST00000558518.5:c.1833G>T ENSP00000454071.1:p.Leu611Phe
ENST00000559340.1:c.426+774G>T
NM_000527.4:c.1833G>T , LRG_274t1:c.1833G>T NP_000518.1:p.Leu611Phe
NM_001195798.1:c.1833G>T NP_001182727.1:p.Leu611Phe
NM_001195799.1:c.1710G>T NP_001182728.1:p.Leu570Phe
NM_001195800.1:c.1329G>T NP_001182729.1:p.Leu443Phe
NM_001195803.1:c.1452G>T NP_001182732.1:p.Leu484Phe
XM_011528010.1:c.1833G>T XP_011526312.1:p.Leu611Phe
XM_011528011.1:c.1452G>T XP_011526313.1:p.Leu484Phe
XR_244074.2:n.1855+774G>T
XM_011528010.2:c.1833G>T XP_011526312.1:p.Leu611Phe
XR_001753685.2:n.1950G>T
XR_001753686.2:n.1822+774G>T
NM_000527.5:c.1833G>T MANE Select NP_000518.1:p.Leu611Phe
NM_001195798.2:c.1833G>T NP_001182727.1:p.Leu611Phe
NM_001195799.2:c.1710G>T NP_001182728.1:p.Leu570Phe
NM_001195800.2:c.1329G>T NP_001182729.1:p.Leu443Phe
NM_001195803.2:c.1452G>T NP_001182732.1:p.Leu484Phe