Canonical Allele Identifier: CA404096893
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128076C>A , CM000681.2:g.11128076C>A GRCh38
NC_000019.9:g.11238752C>A , CM000681.1:g.11238752C>A GRCh37
NC_000019.8:g.11099752C>A NCBI36
NG_009060.1:g.43696C>A , LRG_274:g.43696C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2638C>A ENSP00000252444.6:p.Leu880Ile
ENST00000559340.2:c.*449C>A ENSP00000453696.2:n.*449C>A
ENST00000560467.2:c.2260C>A ENSP00000453513.2:p.Leu754Ile
ENST00000558518.6:c.2380C>A MANE Select ENSP00000454071.1:p.Leu794Ile
ENST00000252444.9:c.2634C>A
ENST00000455727.6:c.1876C>A ENSP00000397829.2:p.Leu626Ile
ENST00000535915.5:c.2257C>A ENSP00000440520.1:p.Leu753Ile
ENST00000545707.5:c.1846C>A ENSP00000437639.1:p.Leu616Ile
ENST00000557933.5:c.2380C>A ENSP00000453557.1:p.Leu794Ile
ENST00000558013.5:c.2380C>A ENSP00000453346.1:p.Leu794Ile
ENST00000558518.5:c.2380C>A ENSP00000454071.1:p.Leu794Ile
ENST00000560628.1:n.108+422C>A
NM_000527.4:c.2380C>A , LRG_274t1:c.2380C>A NP_000518.1:p.Leu794Ile
NM_001195798.1:c.2380C>A NP_001182727.1:p.Leu794Ile
NM_001195799.1:c.2257C>A NP_001182728.1:p.Leu753Ile
NM_001195800.1:c.1876C>A NP_001182729.1:p.Leu626Ile
NM_001195803.1:c.1846C>A NP_001182732.1:p.Leu616Ile
XM_011528010.1:c.2312-1437C>A XP_011526312.1:n.2312-1437C>A
XM_011528011.1:c.1999C>A XP_011526313.1:p.Leu667Ile
XR_244074.2:n.2390C>A
XM_011528010.2:c.2312-1437C>A XP_011526312.1:n.2312-1437C>A
XR_001753685.2:n.2714C>A
XR_001753686.2:n.2357C>A
NM_000527.5:c.2380C>A MANE Select NP_000518.1:p.Leu794Ile
NM_001195798.2:c.2380C>A NP_001182727.1:p.Leu794Ile
NM_001195799.2:c.2257C>A NP_001182728.1:p.Leu753Ile
NM_001195800.2:c.1876C>A NP_001182729.1:p.Leu626Ile
NM_001195803.2:c.1846C>A NP_001182732.1:p.Leu616Ile