Canonical Allele Identifier: CA404082686
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110700A>C , CM000681.2:g.11110700A>C GRCh38
NC_000019.9:g.11221376A>C , CM000681.1:g.11221376A>C GRCh37
NC_000019.8:g.11082376A>C NCBI36
NG_009060.1:g.26320A>C , LRG_274:g.26320A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1247A>C ENSP00000252444.6:p.Asn416Thr
ENST00000559340.2:c.989A>C ENSP00000453696.2:p.Asn330Thr
ENST00000560467.2:c.941-814A>C ENSP00000453513.2:n.941-814A>C
ENST00000558518.6:c.989A>C MANE Select ENSP00000454071.1:p.Asn330Thr
ENST00000252444.9:c.1243A>C
ENST00000455727.6:c.485A>C ENSP00000397829.2:p.Asn162Thr
ENST00000535915.5:c.866A>C ENSP00000440520.1:p.Asn289Thr
ENST00000545707.5:c.608A>C ENSP00000437639.1:p.Asn203Thr
ENST00000557933.5:c.989A>C ENSP00000453557.1:p.Asn330Thr
ENST00000558013.5:c.989A>C ENSP00000453346.1:p.Asn330Thr
ENST00000558518.5:c.989A>C ENSP00000454071.1:p.Asn330Thr
ENST00000560467.1:c.541-814A>C
NM_000527.4:c.989A>C , LRG_274t1:c.989A>C NP_000518.1:p.Asn330Thr
NM_001195798.1:c.989A>C NP_001182727.1:p.Asn330Thr
NM_001195799.1:c.866A>C NP_001182728.1:p.Asn289Thr
NM_001195800.1:c.485A>C NP_001182729.1:p.Asn162Thr
NM_001195803.1:c.608A>C NP_001182732.1:p.Asn203Thr
XM_011528010.1:c.989A>C XP_011526312.1:p.Asn330Thr
XM_011528011.1:c.608A>C XP_011526313.1:p.Asn203Thr
XR_244074.2:n.1139A>C
XM_011528010.2:c.989A>C XP_011526312.1:p.Asn330Thr
XR_001753685.2:n.1106A>C
XR_001753686.2:n.1106A>C
NM_000527.5:c.989A>C MANE Select NP_000518.1:p.Asn330Thr
NM_001195798.2:c.989A>C NP_001182727.1:p.Asn330Thr
NM_001195799.2:c.866A>C NP_001182728.1:p.Asn289Thr
NM_001195800.2:c.485A>C NP_001182729.1:p.Asn162Thr
NM_001195803.2:c.608A>C NP_001182732.1:p.Asn203Thr