Canonical Allele Identifier: CA2322770752
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111586A= , CM000681.2:g.11111586A= GRCh38
NC_000019.9:g.11222262A= , CM000681.1:g.11222262A= GRCh37
NC_000019.8:g.11083262A= NCBI36
NG_009060.1:g.27206A= , LRG_274:g.27206A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1391A= ENSP00000252444.6:p.Gln464=
ENST00000559340.2:c.1133A= ENSP00000453696.2:p.Gln378=
ENST00000560467.2:c.1013A= ENSP00000453513.2:p.Gln338=
ENST00000558518.6:c.1133A= MANE Select ENSP00000454071.1:p.Gln378=
ENST00000252444.9:c.1387A=
ENST00000455727.6:c.629A= ENSP00000397829.2:p.Gln210=
ENST00000535915.5:c.1010A= ENSP00000440520.1:p.Gln337=
ENST00000545707.5:c.752A= ENSP00000437639.1:p.Gln251=
ENST00000557933.5:c.1133A= ENSP00000453557.1:p.Gln378=
ENST00000558013.5:c.1133A= ENSP00000453346.1:p.Gln378=
ENST00000558518.5:c.1133A= ENSP00000454071.1:p.Gln378=
ENST00000560173.1:n.132A=
ENST00000560467.1:c.613A=
NM_000527.4:c.1133A= , LRG_274t1:c.1133A= NP_000518.1:p.Gln378=
NM_001195798.1:c.1133A= NP_001182727.1:p.Gln378=
NM_001195799.1:c.1010A= NP_001182728.1:p.Gln337=
NM_001195800.1:c.629A= NP_001182729.1:p.Gln210=
NM_001195803.1:c.752A= NP_001182732.1:p.Gln251=
XM_011528010.1:c.1133A= XP_011526312.1:p.Gln378=
XM_011528011.1:c.752A= XP_011526313.1:p.Gln251=
XR_244074.2:n.1283A=
XM_011528010.2:c.1133A= XP_011526312.1:p.Gln378=
XR_001753685.2:n.1250A=
XR_001753686.2:n.1250A=
NM_000527.5:c.1133A= MANE Select NP_000518.1:p.Gln378=
NM_001195798.2:c.1133A= NP_001182727.1:p.Gln378=
NM_001195799.2:c.1010A= NP_001182728.1:p.Gln337=
NM_001195800.2:c.629A= NP_001182729.1:p.Gln210=
NM_001195803.2:c.752A= NP_001182732.1:p.Gln251=