Canonical Allele Identifier: CA2322775527
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120371A= , CM000681.2:g.11120371A= GRCh38
NC_000019.9:g.11231047A= , CM000681.1:g.11231047A= GRCh37
NC_000019.8:g.11092047A= NCBI36
NG_009060.1:g.35991A= , LRG_274:g.35991A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2247A= ENSP00000252444.6:p.Gly749=
ENST00000559340.2:c.*58A= ENSP00000453696.2:n.*58A=
ENST00000560467.2:c.1869A= ENSP00000453513.2:p.Gly623=
ENST00000558518.6:c.1989A= MANE Select ENSP00000454071.1:p.Gly663=
ENST00000252444.9:c.2243A=
ENST00000455727.6:c.1485A= ENSP00000397829.2:p.Gly495=
ENST00000535915.5:c.1866A= ENSP00000440520.1:p.Gly622=
ENST00000545707.5:c.1606+138A= ENSP00000437639.1:n.1606+138A=
ENST00000557933.5:c.1989A= ENSP00000453557.1:p.Gly663=
ENST00000558013.5:c.1989A= ENSP00000453346.1:p.Gly663=
ENST00000558518.5:c.1989A= ENSP00000454071.1:p.Gly663=
ENST00000559340.1:c.570A=
NM_000527.4:c.1989A= , LRG_274t1:c.1989A= NP_000518.1:p.Gly663=
NM_001195798.1:c.1989A= NP_001182727.1:p.Gly663=
NM_001195799.1:c.1866A= NP_001182728.1:p.Gly622=
NM_001195800.1:c.1485A= NP_001182729.1:p.Gly495=
NM_001195803.1:c.1606+138A= NP_001182732.1:n.1606+138A=
XM_011528010.1:c.1989A= XP_011526312.1:p.Gly663=
XM_011528011.1:c.1608A= XP_011526313.1:p.Gly536=
XR_244074.2:n.1999A=
XM_011528010.2:c.1989A= XP_011526312.1:p.Gly663=
XR_001753685.2:n.2106A=
XR_001753686.2:n.1966A=
NM_000527.5:c.1989A= MANE Select NP_000518.1:p.Gly663=
NM_001195798.2:c.1989A= NP_001182727.1:p.Gly663=
NM_001195799.2:c.1866A= NP_001182728.1:p.Gly622=
NM_001195800.2:c.1485A= NP_001182729.1:p.Gly495=
NM_001195803.2:c.1606+138A= NP_001182732.1:n.1606+138A=