Canonical Allele Identifier: CA2322767715
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105720T= , CM000681.2:g.11105720T= GRCh38
NC_000019.9:g.11216396T= , CM000681.1:g.11216396T= GRCh37
NC_000019.8:g.11077396T= NCBI36
NG_009060.1:g.21340T= , LRG_274:g.21340T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.952+120T= ENSP00000252444.6:n.952+120T=
ENST00000559340.2:c.694+120T= ENSP00000453696.2:n.694+120T=
ENST00000560467.2:c.694+120T= ENSP00000453513.2:n.694+120T=
ENST00000558518.6:c.694+120T= MANE Select ENSP00000454071.1:n.694+120T=
ENST00000252444.9:c.948+120T=
ENST00000455727.6:c.314-1672T= ENSP00000397829.2:n.314-1672T=
ENST00000535915.5:c.571+120T= ENSP00000440520.1:n.571+120T=
ENST00000545707.5:c.314-845T= ENSP00000437639.1:n.314-845T=
ENST00000557933.5:c.694+120T= ENSP00000453557.1:n.694+120T=
ENST00000558013.5:c.694+120T= ENSP00000453346.1:n.694+120T=
ENST00000558518.5:c.694+120T= ENSP00000454071.1:n.694+120T=
ENST00000560467.1:c.294+120T=
NM_000527.4:c.694+120T= , LRG_274t1:c.694+120T= NP_000518.1:n.694+120T=
NM_001195798.1:c.694+120T= NP_001182727.1:n.694+120T=
NM_001195799.1:c.571+120T= NP_001182728.1:n.571+120T=
NM_001195800.1:c.314-1672T= NP_001182729.1:n.314-1672T=
NM_001195803.1:c.314-845T= NP_001182732.1:n.314-845T=
XM_011528010.1:c.694+120T= XP_011526312.1:n.694+120T=
XM_011528011.1:c.314-845T= XP_011526313.1:n.314-845T=
XR_244074.2:n.844+120T=
XM_011528010.2:c.694+120T= XP_011526312.1:n.694+120T=
XR_001753685.2:n.811+120T=
XR_001753686.2:n.811+120T=
NM_000527.5:c.694+120T= MANE Select NP_000518.1:n.694+120T=
NM_001195798.2:c.694+120T= NP_001182727.1:n.694+120T=
NM_001195799.2:c.571+120T= NP_001182728.1:n.571+120T=
NM_001195800.2:c.314-1672T= NP_001182729.1:n.314-1672T=
NM_001195803.2:c.314-845T= NP_001182732.1:n.314-845T=