Canonical Allele Identifier: CA2322770908
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111821C= , CM000681.2:g.11111821C= GRCh38
NC_000019.9:g.11222497C= , CM000681.1:g.11222497C= GRCh37
NC_000019.8:g.11083497C= NCBI36
NG_009060.1:g.27441C= , LRG_274:g.27441C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1444+182C= ENSP00000252444.6:n.1444+182C=
ENST00000559340.2:c.1186+182C= ENSP00000453696.2:n.1186+182C=
ENST00000560467.2:c.1066+182C= ENSP00000453513.2:n.1066+182C=
ENST00000558518.6:c.1186+182C= MANE Select ENSP00000454071.1:n.1186+182C=
ENST00000252444.9:c.1440+182C=
ENST00000455727.6:c.682+182C= ENSP00000397829.2:n.682+182C=
ENST00000535915.5:c.1063+182C= ENSP00000440520.1:n.1063+182C=
ENST00000545707.5:c.805+182C= ENSP00000437639.1:n.805+182C=
ENST00000557933.5:c.1186+182C= ENSP00000453557.1:n.1186+182C=
ENST00000558013.5:c.1186+182C= ENSP00000453346.1:n.1186+182C=
ENST00000558518.5:c.1186+182C= ENSP00000454071.1:n.1186+182C=
ENST00000560173.1:n.185+182C=
ENST00000560467.1:c.666+182C=
NM_000527.4:c.1186+182C= , LRG_274t1:c.1186+182C= NP_000518.1:n.1186+182C=
NM_001195798.1:c.1186+182C= NP_001182727.1:n.1186+182C=
NM_001195799.1:c.1063+182C= NP_001182728.1:n.1063+182C=
NM_001195800.1:c.682+182C= NP_001182729.1:n.682+182C=
NM_001195803.1:c.805+182C= NP_001182732.1:n.805+182C=
XM_011528010.1:c.1186+182C= XP_011526312.1:n.1186+182C=
XM_011528011.1:c.805+182C= XP_011526313.1:n.805+182C=
XR_244074.2:n.1336+182C=
XM_011528010.2:c.1186+182C= XP_011526312.1:n.1186+182C=
XR_001753685.2:n.1303+182C=
XR_001753686.2:n.1303+182C=
NM_000527.5:c.1186+182C= MANE Select NP_000518.1:n.1186+182C=
NM_001195798.2:c.1186+182C= NP_001182727.1:n.1186+182C=
NM_001195799.2:c.1063+182C= NP_001182728.1:n.1063+182C=
NM_001195800.2:c.682+182C= NP_001182729.1:n.682+182C=
NM_001195803.2:c.805+182C= NP_001182732.1:n.805+182C=