Canonical Allele Identifier: CA404082698
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110705C>A , CM000681.2:g.11110705C>A GRCh38
NC_000019.9:g.11221381C>A , CM000681.1:g.11221381C>A GRCh37
NC_000019.8:g.11082381C>A NCBI36
NG_009060.1:g.26325C>A , LRG_274:g.26325C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1252C>A ENSP00000252444.6:p.Leu418Ile
ENST00000559340.2:c.994C>A ENSP00000453696.2:p.Leu332Ile
ENST00000560467.2:c.941-809C>A ENSP00000453513.2:n.941-809C>A
ENST00000558518.6:c.994C>A MANE Select ENSP00000454071.1:p.Leu332Ile
ENST00000252444.9:c.1248C>A
ENST00000455727.6:c.490C>A ENSP00000397829.2:p.Leu164Ile
ENST00000535915.5:c.871C>A ENSP00000440520.1:p.Leu291Ile
ENST00000545707.5:c.613C>A ENSP00000437639.1:p.Leu205Ile
ENST00000557933.5:c.994C>A ENSP00000453557.1:p.Leu332Ile
ENST00000558013.5:c.994C>A ENSP00000453346.1:p.Leu332Ile
ENST00000558518.5:c.994C>A ENSP00000454071.1:p.Leu332Ile
ENST00000560467.1:c.541-809C>A
NM_000527.4:c.994C>A , LRG_274t1:c.994C>A NP_000518.1:p.Leu332Ile
NM_001195798.1:c.994C>A NP_001182727.1:p.Leu332Ile
NM_001195799.1:c.871C>A NP_001182728.1:p.Leu291Ile
NM_001195800.1:c.490C>A NP_001182729.1:p.Leu164Ile
NM_001195803.1:c.613C>A NP_001182732.1:p.Leu205Ile
XM_011528010.1:c.994C>A XP_011526312.1:p.Leu332Ile
XM_011528011.1:c.613C>A XP_011526313.1:p.Leu205Ile
XR_244074.2:n.1144C>A
XM_011528010.2:c.994C>A XP_011526312.1:p.Leu332Ile
XR_001753685.2:n.1111C>A
XR_001753686.2:n.1111C>A
NM_000527.5:c.994C>A MANE Select NP_000518.1:p.Leu332Ile
NM_001195798.2:c.994C>A NP_001182727.1:p.Leu332Ile
NM_001195799.2:c.871C>A NP_001182728.1:p.Leu291Ile
NM_001195800.2:c.490C>A NP_001182729.1:p.Leu164Ile
NM_001195803.2:c.613C>A NP_001182732.1:p.Leu205Ile