Canonical Allele Identifier: CA034017
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 926526
ClinVar RCV Id: RCV001189133
dbSNP Id: rs761004553

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113542C>T , CM000681.2:g.11113542C>T GRCh38
NC_000019.9:g.11224218C>T , CM000681.1:g.11224218C>T GRCh37
NC_000019.8:g.11085218C>T NCBI36
NG_009060.1:g.29162C>T , LRG_274:g.29162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1624C>T ENSP00000252444.6:p.Leu542Phe
ENST00000559340.2:c.1366C>T ENSP00000453696.2:p.Leu456Phe
ENST00000560467.2:c.1246C>T ENSP00000453513.2:p.Leu416Phe
ENST00000558518.6:c.1366C>T MANE Select ENSP00000454071.1:p.Leu456Phe
ENST00000252444.9:c.1620C>T
ENST00000455727.6:c.862C>T ENSP00000397829.2:p.Leu288Phe
ENST00000535915.5:c.1243C>T ENSP00000440520.1:p.Leu415Phe
ENST00000545707.5:c.985C>T ENSP00000437639.1:p.Leu329Phe
ENST00000557933.5:c.1366C>T ENSP00000453557.1:p.Leu456Phe
ENST00000558013.5:c.1366C>T ENSP00000453346.1:p.Leu456Phe
ENST00000558518.5:c.1366C>T ENSP00000454071.1:p.Leu456Phe
ENST00000559340.1:c.87C>T
ENST00000560467.1:c.846C>T
NM_000527.4:c.1366C>T , LRG_274t1:c.1366C>T NP_000518.1:p.Leu456Phe
NM_001195798.1:c.1366C>T NP_001182727.1:p.Leu456Phe
NM_001195799.1:c.1243C>T NP_001182728.1:p.Leu415Phe
NM_001195800.1:c.862C>T NP_001182729.1:p.Leu288Phe
NM_001195803.1:c.985C>T NP_001182732.1:p.Leu329Phe
XM_011528010.1:c.1366C>T XP_011526312.1:p.Leu456Phe
XM_011528011.1:c.985C>T XP_011526313.1:p.Leu329Phe
XR_244074.2:n.1516C>T
XM_011528010.2:c.1366C>T XP_011526312.1:p.Leu456Phe
XR_001753685.2:n.1483C>T
XR_001753686.2:n.1483C>T
NM_000527.5:c.1366C>T MANE Select NP_000518.1:p.Leu456Phe
NM_001195798.2:c.1366C>T NP_001182727.1:p.Leu456Phe
NM_001195799.2:c.1243C>T NP_001182728.1:p.Leu415Phe
NM_001195800.2:c.862C>T NP_001182729.1:p.Leu288Phe
NM_001195803.2:c.985C>T NP_001182732.1:p.Leu329Phe