Canonical Allele Identifier: CA2322770753
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111587G= , CM000681.2:g.11111587G= GRCh38
NC_000019.9:g.11222263G= , CM000681.1:g.11222263G= GRCh37
NC_000019.8:g.11083263G= NCBI36
NG_009060.1:g.27207G= , LRG_274:g.27207G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1392G= ENSP00000252444.6:p.Gln464=
ENST00000559340.2:c.1134G= ENSP00000453696.2:p.Gln378=
ENST00000560467.2:c.1014G= ENSP00000453513.2:p.Gln338=
ENST00000558518.6:c.1134G= MANE Select ENSP00000454071.1:p.Gln378=
ENST00000252444.9:c.1388G=
ENST00000455727.6:c.630G= ENSP00000397829.2:p.Gln210=
ENST00000535915.5:c.1011G= ENSP00000440520.1:p.Gln337=
ENST00000545707.5:c.753G= ENSP00000437639.1:p.Gln251=
ENST00000557933.5:c.1134G= ENSP00000453557.1:p.Gln378=
ENST00000558013.5:c.1134G= ENSP00000453346.1:p.Gln378=
ENST00000558518.5:c.1134G= ENSP00000454071.1:p.Gln378=
ENST00000560173.1:n.133G=
ENST00000560467.1:c.614G=
NM_000527.4:c.1134G= , LRG_274t1:c.1134G= NP_000518.1:p.Gln378=
NM_001195798.1:c.1134G= NP_001182727.1:p.Gln378=
NM_001195799.1:c.1011G= NP_001182728.1:p.Gln337=
NM_001195800.1:c.630G= NP_001182729.1:p.Gln210=
NM_001195803.1:c.753G= NP_001182732.1:p.Gln251=
XM_011528010.1:c.1134G= XP_011526312.1:p.Gln378=
XM_011528011.1:c.753G= XP_011526313.1:p.Gln251=
XR_244074.2:n.1284G=
XM_011528010.2:c.1134G= XP_011526312.1:p.Gln378=
XR_001753685.2:n.1251G=
XR_001753686.2:n.1251G=
NM_000527.5:c.1134G= MANE Select NP_000518.1:p.Gln378=
NM_001195798.2:c.1134G= NP_001182727.1:p.Gln378=
NM_001195799.2:c.1011G= NP_001182728.1:p.Gln337=
NM_001195800.2:c.630G= NP_001182729.1:p.Gln210=
NM_001195803.2:c.753G= NP_001182732.1:p.Gln251=