Canonical Allele Identifier: CA404089880
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116996G>C , CM000681.2:g.11116996G>C GRCh38
NC_000019.9:g.11227672G>C , CM000681.1:g.11227672G>C GRCh37
NC_000019.8:g.11088672G>C NCBI36
NG_009060.1:g.32616G>C , LRG_274:g.32616G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2101G>C ENSP00000252444.6:p.Glu701Gln
ENST00000559340.2:c.1705+784G>C ENSP00000453696.2:n.1705+784G>C
ENST00000560467.2:c.1723G>C ENSP00000453513.2:p.Glu575Gln
ENST00000558518.6:c.1843G>C MANE Select ENSP00000454071.1:p.Glu615Gln
ENST00000252444.9:c.2097G>C
ENST00000455727.6:c.1339G>C ENSP00000397829.2:p.Glu447Gln
ENST00000535915.5:c.1720G>C ENSP00000440520.1:p.Glu574Gln
ENST00000545707.5:c.1462G>C ENSP00000437639.1:p.Glu488Gln
ENST00000557933.5:c.1843G>C ENSP00000453557.1:p.Glu615Gln
ENST00000558013.5:c.1843G>C ENSP00000453346.1:p.Glu615Gln
ENST00000558518.5:c.1843G>C ENSP00000454071.1:p.Glu615Gln
ENST00000559340.1:c.426+784G>C
NM_000527.4:c.1843G>C , LRG_274t1:c.1843G>C NP_000518.1:p.Glu615Gln
NM_001195798.1:c.1843G>C NP_001182727.1:p.Glu615Gln
NM_001195799.1:c.1720G>C NP_001182728.1:p.Glu574Gln
NM_001195800.1:c.1339G>C NP_001182729.1:p.Glu447Gln
NM_001195803.1:c.1462G>C NP_001182732.1:p.Glu488Gln
XM_011528010.1:c.1843G>C XP_011526312.1:p.Glu615Gln
XM_011528011.1:c.1462G>C XP_011526313.1:p.Glu488Gln
XR_244074.2:n.1855+784G>C
XM_011528010.2:c.1843G>C XP_011526312.1:p.Glu615Gln
XR_001753685.2:n.1960G>C
XR_001753686.2:n.1822+784G>C
NM_000527.5:c.1843G>C MANE Select NP_000518.1:p.Glu615Gln
NM_001195798.2:c.1843G>C NP_001182727.1:p.Glu615Gln
NM_001195799.2:c.1720G>C NP_001182728.1:p.Glu574Gln
NM_001195800.2:c.1339G>C NP_001182729.1:p.Glu447Gln
NM_001195803.2:c.1462G>C NP_001182732.1:p.Glu488Gln