Canonical Allele Identifier: CA404080840
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107446C>A , CM000681.2:g.11107446C>A GRCh38
NC_000019.9:g.11218122C>A , CM000681.1:g.11218122C>A GRCh37
NC_000019.8:g.11079122C>A NCBI36
NG_009060.1:g.23066C>A , LRG_274:g.23066C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.1130C>A ENSP00000252444.6:p.Thr377Asn
ENST00000559340.2:c.872C>A ENSP00000453696.2:p.Thr291Asn
ENST00000560467.2:c.872C>A ENSP00000453513.2:p.Thr291Asn
ENST00000558518.6:c.872C>A MANE Select ENSP00000454071.1:p.Thr291Asn
ENST00000252444.9:c.1126C>A
ENST00000455727.6:c.368C>A ENSP00000397829.2:p.Thr123Asn
ENST00000535915.5:c.749C>A ENSP00000440520.1:p.Thr250Asn
ENST00000545707.5:c.491C>A ENSP00000437639.1:p.Thr164Asn
ENST00000557933.5:c.872C>A ENSP00000453557.1:p.Thr291Asn
ENST00000558013.5:c.872C>A ENSP00000453346.1:p.Thr291Asn
ENST00000558518.5:c.872C>A ENSP00000454071.1:p.Thr291Asn
ENST00000558528.1:n.387C>A
ENST00000560467.1:c.472C>A
NM_000527.4:c.872C>A , LRG_274t1:c.872C>A NP_000518.1:p.Thr291Asn
NM_001195798.1:c.872C>A NP_001182727.1:p.Thr291Asn
NM_001195799.1:c.749C>A NP_001182728.1:p.Thr250Asn
NM_001195800.1:c.368C>A NP_001182729.1:p.Thr123Asn
NM_001195803.1:c.491C>A NP_001182732.1:p.Thr164Asn
XM_011528010.1:c.872C>A XP_011526312.1:p.Thr291Asn
XM_011528011.1:c.491C>A XP_011526313.1:p.Thr164Asn
XR_244074.2:n.1022C>A
XM_011528010.2:c.872C>A XP_011526312.1:p.Thr291Asn
XR_001753685.2:n.989C>A
XR_001753686.2:n.989C>A
NM_000527.5:c.872C>A MANE Select NP_000518.1:p.Thr291Asn
NM_001195798.2:c.872C>A NP_001182727.1:p.Thr291Asn
NM_001195799.2:c.749C>A NP_001182728.1:p.Thr250Asn
NM_001195800.2:c.368C>A NP_001182729.1:p.Thr123Asn
NM_001195803.2:c.491C>A NP_001182732.1:p.Thr164Asn