Canonical Allele Identifier: CA2322775597
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120441A= , CM000681.2:g.11120441A= GRCh38
NC_000019.9:g.11231117A= , CM000681.1:g.11231117A= GRCh37
NC_000019.8:g.11092117A= NCBI36
NG_009060.1:g.36061A= , LRG_274:g.36061A=

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.2317A= ENSP00000252444.6:p.Ile773=
ENST00000559340.2:c.*128A= ENSP00000453696.2:n.*128A=
ENST00000560467.2:c.1939A= ENSP00000453513.2:p.Ile647=
ENST00000558518.6:c.2059A= MANE Select ENSP00000454071.1:p.Ile687=
ENST00000252444.9:c.2313A=
ENST00000455727.6:c.1555A= ENSP00000397829.2:p.Ile519=
ENST00000535915.5:c.1936A= ENSP00000440520.1:p.Ile646=
ENST00000545707.5:c.1606+208A= ENSP00000437639.1:n.1606+208A=
ENST00000557933.5:c.2059A= ENSP00000453557.1:p.Ile687=
ENST00000558013.5:c.2059A= ENSP00000453346.1:p.Ile687=
ENST00000558518.5:c.2059A= ENSP00000454071.1:p.Ile687=
NM_000527.4:c.2059A= , LRG_274t1:c.2059A= NP_000518.1:p.Ile687=
NM_001195798.1:c.2059A= NP_001182727.1:p.Ile687=
NM_001195799.1:c.1936A= NP_001182728.1:p.Ile646=
NM_001195800.1:c.1555A= NP_001182729.1:p.Ile519=
NM_001195803.1:c.1606+208A= NP_001182732.1:n.1606+208A=
XM_011528010.1:c.2059A= XP_011526312.1:p.Ile687=
XM_011528011.1:c.1678A= XP_011526313.1:p.Ile560=
XR_244074.2:n.2069A=
XM_011528010.2:c.2059A= XP_011526312.1:p.Ile687=
XR_001753685.2:n.2176A=
XR_001753686.2:n.2036A=
NM_000527.5:c.2059A= MANE Select NP_000518.1:p.Ile687=
NM_001195798.2:c.2059A= NP_001182727.1:p.Ile687=
NM_001195799.2:c.1936A= NP_001182728.1:p.Ile646=
NM_001195800.2:c.1555A= NP_001182729.1:p.Ile519=
NM_001195803.2:c.1606+208A= NP_001182732.1:n.1606+208A=