Canonical Allele Identifier: CA404098354
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129527C>A , CM000681.2:g.11129527C>A GRCh38
NC_000019.9:g.11240203C>A , CM000681.1:g.11240203C>A GRCh37
NC_000019.8:g.11101203C>A NCBI36
NG_009060.1:g.45147C>A , LRG_274:g.45147C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2662C>A ENSP00000252444.6:p.Leu888Ile
ENST00000559340.2:c.*473C>A ENSP00000453696.2:n.*473C>A
ENST00000560467.2:c.2284C>A ENSP00000453513.2:p.Leu762Ile
ENST00000558518.6:c.2404C>A MANE Select ENSP00000454071.1:p.Leu802Ile
ENST00000252444.9:c.2658C>A
ENST00000455727.6:c.1900C>A ENSP00000397829.2:p.Leu634Ile
ENST00000535915.5:c.2281C>A ENSP00000440520.1:p.Leu761Ile
ENST00000545707.5:c.1870C>A ENSP00000437639.1:p.Leu624Ile
ENST00000557933.5:c.2466C>A ENSP00000453557.1:p.Ser822=
ENST00000558013.5:c.2404C>A ENSP00000453346.1:p.Leu802Ile
ENST00000558518.5:c.2404C>A ENSP00000454071.1:p.Leu802Ile
ENST00000560628.1:n.108+1873C>A
NM_000527.4:c.2404C>A , LRG_274t1:c.2404C>A NP_000518.1:p.Leu802Ile
NM_001195798.1:c.2404C>A NP_001182727.1:p.Leu802Ile
NM_001195799.1:c.2281C>A NP_001182728.1:p.Leu761Ile
NM_001195800.1:c.1900C>A NP_001182729.1:p.Leu634Ile
NM_001195803.1:c.1870C>A NP_001182732.1:p.Leu624Ile
XM_011528010.1:c.2326C>A XP_011526312.1:p.Leu776Ile
XM_011528011.1:c.2023C>A XP_011526313.1:p.Leu675Ile
XR_244074.2:n.2414C>A
XM_011528010.2:c.2326C>A XP_011526312.1:p.Leu776Ile
XR_001753685.2:n.2738C>A
XR_001753686.2:n.2381C>A
NM_000527.5:c.2404C>A MANE Select NP_000518.1:p.Leu802Ile
NM_001195798.2:c.2404C>A NP_001182727.1:p.Leu802Ile
NM_001195799.2:c.2281C>A NP_001182728.1:p.Leu761Ile
NM_001195800.2:c.1900C>A NP_001182729.1:p.Leu634Ile
NM_001195803.2:c.1870C>A NP_001182732.1:p.Leu624Ile