Canonical Allele Identifier: CA2322775399
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120174C= , CM000681.2:g.11120174C= GRCh38
NC_000019.9:g.11230850C= , CM000681.1:g.11230850C= GRCh37
NC_000019.8:g.11091850C= NCBI36
NG_009060.1:g.35794C= , LRG_274:g.35794C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2186C= ENSP00000252444.6:p.Ala729=
ENST00000559340.2:c.1788C= ENSP00000453696.2:p.Gly596=
ENST00000560467.2:c.1808C= ENSP00000453513.2:p.Ala603=
ENST00000558518.6:c.1928C= MANE Select ENSP00000454071.1:p.Ala643=
ENST00000252444.9:c.2182C=
ENST00000455727.6:c.1424C= ENSP00000397829.2:p.Ala475=
ENST00000535915.5:c.1805C= ENSP00000440520.1:p.Ala602=
ENST00000545707.5:c.1547C= ENSP00000437639.1:p.Ala516=
ENST00000557933.5:c.1928C= ENSP00000453557.1:p.Ala643=
ENST00000558013.5:c.1928C= ENSP00000453346.1:p.Ala643=
ENST00000558518.5:c.1928C= ENSP00000454071.1:p.Ala643=
ENST00000559340.1:c.509C=
NM_000527.4:c.1928C= , LRG_274t1:c.1928C= NP_000518.1:p.Ala643=
NM_001195798.1:c.1928C= NP_001182727.1:p.Ala643=
NM_001195799.1:c.1805C= NP_001182728.1:p.Ala602=
NM_001195800.1:c.1424C= NP_001182729.1:p.Ala475=
NM_001195803.1:c.1547C= NP_001182732.1:p.Ala516=
XM_011528010.1:c.1928C= XP_011526312.1:p.Ala643=
XM_011528011.1:c.1547C= XP_011526313.1:p.Ala516=
XR_244074.2:n.1938C=
XM_011528010.2:c.1928C= XP_011526312.1:p.Ala643=
XR_001753685.2:n.2045C=
XR_001753686.2:n.1905C=
NM_000527.5:c.1928C= MANE Select NP_000518.1:p.Ala643=
NM_001195798.2:c.1928C= NP_001182727.1:p.Ala643=
NM_001195799.2:c.1805C= NP_001182728.1:p.Ala602=
NM_001195800.2:c.1424C= NP_001182729.1:p.Ala475=
NM_001195803.2:c.1547C= NP_001182732.1:p.Ala516=