Canonical Allele Identifier: CA2322780323
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129652C= , CM000681.2:g.11129652C= GRCh38
NC_000019.9:g.11240328C= , CM000681.1:g.11240328C= GRCh37
NC_000019.8:g.11101328C= NCBI36
NG_009060.1:g.45272C= , LRG_274:g.45272C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2787C= ENSP00000252444.6:p.Asp929=
ENST00000559340.2:c.*598C= ENSP00000453696.2:n.*598C=
ENST00000560467.2:c.2409C= ENSP00000453513.2:p.Asp803=
ENST00000558518.6:c.2529C= MANE Select ENSP00000454071.1:p.Asp843=
ENST00000252444.9:c.2783C=
ENST00000455727.6:c.2025C= ENSP00000397829.2:p.Asp675=
ENST00000535915.5:c.2406C= ENSP00000440520.1:p.Asp802=
ENST00000545707.5:c.1995C= ENSP00000437639.1:p.Asp665=
ENST00000557933.5:c.2591C= ENSP00000453557.1:p.Thr864=
ENST00000558013.5:c.2529C= ENSP00000453346.1:p.Asp843=
ENST00000558518.5:c.2529C= ENSP00000454071.1:p.Asp843=
ENST00000560628.1:n.108+1998C=
NM_000527.4:c.2529C= , LRG_274t1:c.2529C= NP_000518.1:p.Asp843=
NM_001195798.1:c.2529C= NP_001182727.1:p.Asp843=
NM_001195799.1:c.2406C= NP_001182728.1:p.Asp802=
NM_001195800.1:c.2025C= NP_001182729.1:p.Asp675=
NM_001195803.1:c.1995C= NP_001182732.1:p.Asp665=
XM_011528010.1:c.2451C= XP_011526312.1:p.Asp817=
XM_011528011.1:c.2148C= XP_011526313.1:p.Asp716=
XM_011528010.2:c.2451C= XP_011526312.1:p.Asp817=
XR_001753685.2:n.2863C=
XR_001753686.2:n.2506C=
NM_000527.5:c.2529C= MANE Select NP_000518.1:p.Asp843=
NM_001195798.2:c.2529C= NP_001182727.1:p.Asp843=
NM_001195799.2:c.2406C= NP_001182728.1:p.Asp802=
NM_001195800.2:c.2025C= NP_001182729.1:p.Asp675=
NM_001195803.2:c.1995C= NP_001182732.1:p.Asp665=