Canonical Allele Identifier: CA404095184
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123263C>G , CM000681.2:g.11123263C>G GRCh38
NC_000019.9:g.11233939C>G , CM000681.1:g.11233939C>G GRCh37
NC_000019.8:g.11094939C>G NCBI36
NG_009060.1:g.38883C>G , LRG_274:g.38883C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2488C>G ENSP00000252444.6:p.Arg830Gly
ENST00000559340.2:c.*299C>G ENSP00000453696.2:n.*299C>G
ENST00000560467.2:c.2110C>G ENSP00000453513.2:p.Arg704Gly
ENST00000558518.6:c.2230C>G MANE Select ENSP00000454071.1:p.Arg744Gly
ENST00000252444.9:c.2484C>G
ENST00000455727.6:c.1726C>G ENSP00000397829.2:p.Arg576Gly
ENST00000535915.5:c.2107C>G ENSP00000440520.1:p.Arg703Gly
ENST00000545707.5:c.1696C>G ENSP00000437639.1:p.Arg566Gly
ENST00000557933.5:c.2230C>G ENSP00000453557.1:p.Arg744Gly
ENST00000558013.5:c.2230C>G ENSP00000453346.1:p.Arg744Gly
ENST00000558518.5:c.2230C>G ENSP00000454071.1:p.Arg744Gly
NM_000527.4:c.2230C>G , LRG_274t1:c.2230C>G NP_000518.1:p.Arg744Gly
NM_001195798.1:c.2230C>G NP_001182727.1:p.Arg744Gly
NM_001195799.1:c.2107C>G NP_001182728.1:p.Arg703Gly
NM_001195800.1:c.1726C>G NP_001182729.1:p.Arg576Gly
NM_001195803.1:c.1696C>G NP_001182732.1:p.Arg566Gly
XM_011528010.1:c.2230C>G XP_011526312.1:p.Arg744Gly
XM_011528011.1:c.1849C>G XP_011526313.1:p.Arg617Gly
XR_244074.2:n.2240C>G
XM_011528010.2:c.2230C>G XP_011526312.1:p.Arg744Gly
XR_001753685.2:n.2564C>G
XR_001753686.2:n.2207C>G
NM_000527.5:c.2230C>G MANE Select NP_000518.1:p.Arg744Gly
NM_001195798.2:c.2230C>G NP_001182727.1:p.Arg744Gly
NM_001195799.2:c.2107C>G NP_001182728.1:p.Arg703Gly
NM_001195800.2:c.1726C>G NP_001182729.1:p.Arg576Gly
NM_001195803.2:c.1696C>G NP_001182732.1:p.Arg566Gly