Canonical Allele Identifier: CA2322775510
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120348G= , CM000681.2:g.11120348G= GRCh38
NC_000019.9:g.11231024G= , CM000681.1:g.11231024G= GRCh37
NC_000019.8:g.11092024G= NCBI36
NG_009060.1:g.35968G= , LRG_274:g.35968G=

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2246-22G= ENSP00000252444.6:n.2246-22G=
ENST00000559340.2:c.*57-22G= ENSP00000453696.2:n.*57-22G=
ENST00000560467.2:c.1868-22G= ENSP00000453513.2:n.1868-22G=
ENST00000558518.6:c.1988-22G= MANE Select ENSP00000454071.1:n.1988-22G=
ENST00000252444.9:c.2242-22G=
ENST00000455727.6:c.1484-22G= ENSP00000397829.2:n.1484-22G=
ENST00000535915.5:c.1865-22G= ENSP00000440520.1:n.1865-22G=
ENST00000545707.5:c.1606+115G= ENSP00000437639.1:n.1606+115G=
ENST00000557933.5:c.1988-22G= ENSP00000453557.1:n.1988-22G=
ENST00000558013.5:c.1988-22G= ENSP00000453346.1:n.1988-22G=
ENST00000558518.5:c.1988-22G= ENSP00000454071.1:n.1988-22G=
ENST00000559340.1:c.569-22G=
NM_000527.4:c.1988-22G= , LRG_274t1:c.1988-22G= NP_000518.1:n.1988-22G=
NM_001195798.1:c.1988-22G= NP_001182727.1:n.1988-22G=
NM_001195799.1:c.1865-22G= NP_001182728.1:n.1865-22G=
NM_001195800.1:c.1484-22G= NP_001182729.1:n.1484-22G=
NM_001195803.1:c.1606+115G= NP_001182732.1:n.1606+115G=
XM_011528010.1:c.1988-22G= XP_011526312.1:n.1988-22G=
XM_011528011.1:c.1607-22G= XP_011526313.1:n.1607-22G=
XR_244074.2:n.1998-22G=
XM_011528010.2:c.1988-22G= XP_011526312.1:n.1988-22G=
XR_001753685.2:n.2105-22G=
XR_001753686.2:n.1965-22G=
NM_000527.5:c.1988-22G= MANE Select NP_000518.1:n.1988-22G=
NM_001195798.2:c.1988-22G= NP_001182727.1:n.1988-22G=
NM_001195799.2:c.1865-22G= NP_001182728.1:n.1865-22G=
NM_001195800.2:c.1484-22G= NP_001182729.1:n.1484-22G=
NM_001195803.2:c.1606+115G= NP_001182732.1:n.1606+115G=