Canonical Allele Identifier: CA2322770302
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110758G= , CM000681.2:g.11110758G= GRCh38
NC_000019.9:g.11221434G= , CM000681.1:g.11221434G= GRCh37
NC_000019.8:g.11082434G= NCBI36
NG_009060.1:g.26378G= , LRG_274:g.26378G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1305G= ENSP00000252444.6:p.Gln435=
ENST00000559340.2:c.1047G= ENSP00000453696.2:p.Gln349=
ENST00000560467.2:c.941-756G= ENSP00000453513.2:n.941-756G=
ENST00000558518.6:c.1047G= MANE Select ENSP00000454071.1:p.Gln349=
ENST00000252444.9:c.1301G=
ENST00000455727.6:c.543G= ENSP00000397829.2:p.Gln181=
ENST00000535915.5:c.924G= ENSP00000440520.1:p.Gln308=
ENST00000545707.5:c.666G= ENSP00000437639.1:p.Gln222=
ENST00000557933.5:c.1047G= ENSP00000453557.1:p.Gln349=
ENST00000558013.5:c.1047G= ENSP00000453346.1:p.Gln349=
ENST00000558518.5:c.1047G= ENSP00000454071.1:p.Gln349=
ENST00000560173.1:n.46G=
ENST00000560467.1:c.541-756G=
NM_000527.4:c.1047G= , LRG_274t1:c.1047G= NP_000518.1:p.Gln349=
NM_001195798.1:c.1047G= NP_001182727.1:p.Gln349=
NM_001195799.1:c.924G= NP_001182728.1:p.Gln308=
NM_001195800.1:c.543G= NP_001182729.1:p.Gln181=
NM_001195803.1:c.666G= NP_001182732.1:p.Gln222=
XM_011528010.1:c.1047G= XP_011526312.1:p.Gln349=
XM_011528011.1:c.666G= XP_011526313.1:p.Gln222=
XR_244074.2:n.1197G=
XM_011528010.2:c.1047G= XP_011526312.1:p.Gln349=
XR_001753685.2:n.1164G=
XR_001753686.2:n.1164G=
NM_000527.5:c.1047G= MANE Select NP_000518.1:p.Gln349=
NM_001195798.2:c.1047G= NP_001182727.1:p.Gln349=
NM_001195799.2:c.924G= NP_001182728.1:p.Gln308=
NM_001195800.2:c.543G= NP_001182729.1:p.Gln181=
NM_001195803.2:c.666G= NP_001182732.1:p.Gln222=