Canonical Allele Identifier: CA2322775628
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120474T= , CM000681.2:g.11120474T= GRCh38
NC_000019.9:g.11231150T= , CM000681.1:g.11231150T= GRCh37
NC_000019.8:g.11092150T= NCBI36
NG_009060.1:g.36094T= , LRG_274:g.36094T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2350T= ENSP00000252444.6:p.Cys784=
ENST00000559340.2:c.*161T= ENSP00000453696.2:n.*161T=
ENST00000560467.2:c.1972T= ENSP00000453513.2:p.Cys658=
ENST00000558518.6:c.2092T= MANE Select ENSP00000454071.1:p.Cys698=
ENST00000252444.9:c.2346T=
ENST00000455727.6:c.1588T= ENSP00000397829.2:p.Cys530=
ENST00000535915.5:c.1969T= ENSP00000440520.1:p.Cys657=
ENST00000545707.5:c.1606+241T= ENSP00000437639.1:n.1606+241T=
ENST00000557933.5:c.2092T= ENSP00000453557.1:p.Cys698=
ENST00000558013.5:c.2092T= ENSP00000453346.1:p.Cys698=
ENST00000558518.5:c.2092T= ENSP00000454071.1:p.Cys698=
NM_000527.4:c.2092T= , LRG_274t1:c.2092T= NP_000518.1:p.Cys698=
NM_001195798.1:c.2092T= NP_001182727.1:p.Cys698=
NM_001195799.1:c.1969T= NP_001182728.1:p.Cys657=
NM_001195800.1:c.1588T= NP_001182729.1:p.Cys530=
NM_001195803.1:c.1606+241T= NP_001182732.1:n.1606+241T=
XM_011528010.1:c.2092T= XP_011526312.1:p.Cys698=
XM_011528011.1:c.1711T= XP_011526313.1:p.Cys571=
XR_244074.2:n.2102T=
XM_011528010.2:c.2092T= XP_011526312.1:p.Cys698=
XR_001753685.2:n.2209T=
XR_001753686.2:n.2069T=
NM_000527.5:c.2092T= MANE Select NP_000518.1:p.Cys698=
NM_001195798.2:c.2092T= NP_001182727.1:p.Cys698=
NM_001195799.2:c.1969T= NP_001182728.1:p.Cys657=
NM_001195800.2:c.1588T= NP_001182729.1:p.Cys530=
NM_001195803.2:c.1606+241T= NP_001182732.1:n.1606+241T=