Canonical Allele Identifier: CA404094829
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123199G>T , CM000681.2:g.11123199G>T GRCh38
NC_000019.9:g.11233875G>T , CM000681.1:g.11233875G>T GRCh37
NC_000019.8:g.11094875G>T NCBI36
NG_009060.1:g.38819G>T , LRG_274:g.38819G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2424G>T ENSP00000252444.6:p.Gln808His
ENST00000559340.2:c.*235G>T ENSP00000453696.2:n.*235G>T
ENST00000560467.2:c.2046G>T ENSP00000453513.2:p.Gln682His
ENST00000558518.6:c.2166G>T MANE Select ENSP00000454071.1:p.Gln722His
ENST00000252444.9:c.2420G>T
ENST00000455727.6:c.1662G>T ENSP00000397829.2:p.Gln554His
ENST00000535915.5:c.2043G>T ENSP00000440520.1:p.Gln681His
ENST00000545707.5:c.1632G>T ENSP00000437639.1:p.Gln544His
ENST00000557933.5:c.2166G>T ENSP00000453557.1:p.Gln722His
ENST00000558013.5:c.2166G>T ENSP00000453346.1:p.Gln722His
ENST00000558518.5:c.2166G>T ENSP00000454071.1:p.Gln722His
NM_000527.4:c.2166G>T , LRG_274t1:c.2166G>T NP_000518.1:p.Gln722His
NM_001195798.1:c.2166G>T NP_001182727.1:p.Gln722His
NM_001195799.1:c.2043G>T NP_001182728.1:p.Gln681His
NM_001195800.1:c.1662G>T NP_001182729.1:p.Gln554His
NM_001195803.1:c.1632G>T NP_001182732.1:p.Gln544His
XM_011528010.1:c.2166G>T XP_011526312.1:p.Gln722His
XM_011528011.1:c.1785G>T XP_011526313.1:p.Gln595His
XR_244074.2:n.2176G>T
XM_011528010.2:c.2166G>T XP_011526312.1:p.Gln722His
XR_001753685.2:n.2500G>T
XR_001753686.2:n.2143G>T
NM_000527.5:c.2166G>T MANE Select NP_000518.1:p.Gln722His
NM_001195798.2:c.2166G>T NP_001182727.1:p.Gln722His
NM_001195799.2:c.2043G>T NP_001182728.1:p.Gln681His
NM_001195800.2:c.1662G>T NP_001182729.1:p.Gln554His
NM_001195803.2:c.1632G>T NP_001182732.1:p.Gln544His