Canonical Allele Identifier: CA2322770246
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110689C= , CM000681.2:g.11110689C= GRCh38
NC_000019.9:g.11221365C= , CM000681.1:g.11221365C= GRCh37
NC_000019.8:g.11082365C= NCBI36
NG_009060.1:g.26309C= , LRG_274:g.26309C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1236C= ENSP00000252444.6:p.Ser412=
ENST00000559340.2:c.978C= ENSP00000453696.2:p.Ser326=
ENST00000560467.2:c.941-825C= ENSP00000453513.2:n.941-825C=
ENST00000558518.6:c.978C= MANE Select ENSP00000454071.1:p.Ser326=
ENST00000252444.9:c.1232C=
ENST00000455727.6:c.474C= ENSP00000397829.2:p.Ser158=
ENST00000535915.5:c.855C= ENSP00000440520.1:p.Ser285=
ENST00000545707.5:c.597C= ENSP00000437639.1:p.Ser199=
ENST00000557933.5:c.978C= ENSP00000453557.1:p.Ser326=
ENST00000558013.5:c.978C= ENSP00000453346.1:p.Ser326=
ENST00000558518.5:c.978C= ENSP00000454071.1:p.Ser326=
ENST00000560467.1:c.541-825C=
NM_000527.4:c.978C= , LRG_274t1:c.978C= NP_000518.1:p.Ser326=
NM_001195798.1:c.978C= NP_001182727.1:p.Ser326=
NM_001195799.1:c.855C= NP_001182728.1:p.Ser285=
NM_001195800.1:c.474C= NP_001182729.1:p.Ser158=
NM_001195803.1:c.597C= NP_001182732.1:p.Ser199=
XM_011528010.1:c.978C= XP_011526312.1:p.Ser326=
XM_011528011.1:c.597C= XP_011526313.1:p.Ser199=
XR_244074.2:n.1128C=
XM_011528010.2:c.978C= XP_011526312.1:p.Ser326=
XR_001753685.2:n.1095C=
XR_001753686.2:n.1095C=
NM_000527.5:c.978C= MANE Select NP_000518.1:p.Ser326=
NM_001195798.2:c.978C= NP_001182727.1:p.Ser326=
NM_001195799.2:c.855C= NP_001182728.1:p.Ser285=
NM_001195800.2:c.474C= NP_001182729.1:p.Ser158=
NM_001195803.2:c.597C= NP_001182732.1:p.Ser199=