Canonical Allele Identifier: CA023574
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 200917
dbSNP Id: rs688

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116926C>T , CM000681.2:g.11116926C>T GRCh38
NC_000019.9:g.11227602C>T , CM000681.1:g.11227602C>T GRCh37
NC_000019.8:g.11088602C>T NCBI36
NG_009060.1:g.32546C>T , LRG_274:g.32546C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2031C>T ENSP00000252444.6:p.Asn677=
ENST00000559340.2:c.1705+714C>T ENSP00000453696.2:n.1705+714C>T
ENST00000560467.2:c.1653C>T ENSP00000453513.2:p.Asn551=
ENST00000558518.6:c.1773C>T MANE Select ENSP00000454071.1:p.Asn591=
ENST00000252444.9:c.2027C>T
ENST00000455727.6:c.1269C>T ENSP00000397829.2:p.Asn423=
ENST00000535915.5:c.1650C>T ENSP00000440520.1:p.Asn550=
ENST00000545707.5:c.1392C>T ENSP00000437639.1:p.Asn464=
ENST00000557933.5:c.1773C>T ENSP00000453557.1:p.Asn591=
ENST00000558013.5:c.1773C>T ENSP00000453346.1:p.Asn591=
ENST00000558518.5:c.1773C>T ENSP00000454071.1:p.Asn591=
ENST00000559340.1:c.426+714C>T
NM_000527.4:c.1773C>T , LRG_274t1:c.1773C>T NP_000518.1:p.Asn591=
NM_001195798.1:c.1773C>T NP_001182727.1:p.Asn591=
NM_001195799.1:c.1650C>T NP_001182728.1:p.Asn550=
NM_001195800.1:c.1269C>T NP_001182729.1:p.Asn423=
NM_001195803.1:c.1392C>T NP_001182732.1:p.Asn464=
XM_011528010.1:c.1773C>T XP_011526312.1:p.Asn591=
XM_011528011.1:c.1392C>T XP_011526313.1:p.Asn464=
XR_244074.2:n.1855+714C>T
XM_011528010.2:c.1773C>T XP_011526312.1:p.Asn591=
XR_001753685.2:n.1890C>T
XR_001753686.2:n.1822+714C>T
NM_000527.5:c.1773C>T MANE Select NP_000518.1:p.Asn591=
NM_001195798.2:c.1773C>T NP_001182727.1:p.Asn591=
NM_001195799.2:c.1650C>T NP_001182728.1:p.Asn550=
NM_001195800.2:c.1269C>T NP_001182729.1:p.Asn423=
NM_001195803.2:c.1392C>T NP_001182732.1:p.Asn464=