Canonical Allele Identifier: CA404099413
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129615C>A , CM000681.2:g.11129615C>A GRCh38
NC_000019.9:g.11240291C>A , CM000681.1:g.11240291C>A GRCh37
NC_000019.8:g.11101291C>A NCBI36
NG_009060.1:g.45235C>A , LRG_274:g.45235C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2750C>A ENSP00000252444.6:p.Thr917Asn
ENST00000559340.2:c.*561C>A ENSP00000453696.2:n.*561C>A
ENST00000560467.2:c.2372C>A ENSP00000453513.2:p.Thr791Asn
ENST00000558518.6:c.2492C>A MANE Select ENSP00000454071.1:p.Thr831Asn
ENST00000252444.9:c.2746C>A
ENST00000455727.6:c.1988C>A ENSP00000397829.2:p.Thr663Asn
ENST00000535915.5:c.2369C>A ENSP00000440520.1:p.Thr790Asn
ENST00000545707.5:c.1958C>A ENSP00000437639.1:p.Thr653Asn
ENST00000557933.5:c.2554C>A ENSP00000453557.1:p.Pro852Thr
ENST00000558013.5:c.2492C>A ENSP00000453346.1:p.Thr831Asn
ENST00000558518.5:c.2492C>A ENSP00000454071.1:p.Thr831Asn
ENST00000560628.1:n.108+1961C>A
NM_000527.4:c.2492C>A , LRG_274t1:c.2492C>A NP_000518.1:p.Thr831Asn
NM_001195798.1:c.2492C>A NP_001182727.1:p.Thr831Asn
NM_001195799.1:c.2369C>A NP_001182728.1:p.Thr790Asn
NM_001195800.1:c.1988C>A NP_001182729.1:p.Thr663Asn
NM_001195803.1:c.1958C>A NP_001182732.1:p.Thr653Asn
XM_011528010.1:c.2414C>A XP_011526312.1:p.Thr805Asn
XM_011528011.1:c.2111C>A XP_011526313.1:p.Thr704Asn
XM_011528010.2:c.2414C>A XP_011526312.1:p.Thr805Asn
XR_001753685.2:n.2826C>A
XR_001753686.2:n.2469C>A
NM_000527.5:c.2492C>A MANE Select NP_000518.1:p.Thr831Asn
NM_001195798.2:c.2492C>A NP_001182727.1:p.Thr831Asn
NM_001195799.2:c.2369C>A NP_001182728.1:p.Thr790Asn
NM_001195800.2:c.1988C>A NP_001182729.1:p.Thr663Asn
NM_001195803.2:c.1958C>A NP_001182732.1:p.Thr653Asn