Canonical Allele Identifier: CA404093219
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120209T>A , CM000681.2:g.11120209T>A GRCh38
NC_000019.9:g.11230885T>A , CM000681.1:g.11230885T>A GRCh37
NC_000019.8:g.11091885T>A NCBI36
NG_009060.1:g.35829T>A , LRG_274:g.35829T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2221T>A ENSP00000252444.6:p.Phe741Ile
ENST00000559340.2:c.*32T>A ENSP00000453696.2:n.*32T>A
ENST00000560467.2:c.1843T>A ENSP00000453513.2:p.Phe615Ile
ENST00000558518.6:c.1963T>A MANE Select ENSP00000454071.1:p.Phe655Ile
ENST00000252444.9:c.2217T>A
ENST00000455727.6:c.1459T>A ENSP00000397829.2:p.Phe487Ile
ENST00000535915.5:c.1840T>A ENSP00000440520.1:p.Phe614Ile
ENST00000545707.5:c.1582T>A ENSP00000437639.1:p.Phe528Ile
ENST00000557933.5:c.1963T>A ENSP00000453557.1:p.Phe655Ile
ENST00000558013.5:c.1963T>A ENSP00000453346.1:p.Phe655Ile
ENST00000558518.5:c.1963T>A ENSP00000454071.1:p.Phe655Ile
ENST00000559340.1:c.544T>A
NM_000527.4:c.1963T>A , LRG_274t1:c.1963T>A NP_000518.1:p.Phe655Ile
NM_001195798.1:c.1963T>A NP_001182727.1:p.Phe655Ile
NM_001195799.1:c.1840T>A NP_001182728.1:p.Phe614Ile
NM_001195800.1:c.1459T>A NP_001182729.1:p.Phe487Ile
NM_001195803.1:c.1582T>A NP_001182732.1:p.Phe528Ile
XM_011528010.1:c.1963T>A XP_011526312.1:p.Phe655Ile
XM_011528011.1:c.1582T>A XP_011526313.1:p.Phe528Ile
XR_244074.2:n.1973T>A
XM_011528010.2:c.1963T>A XP_011526312.1:p.Phe655Ile
XR_001753685.2:n.2080T>A
XR_001753686.2:n.1940T>A
NM_000527.5:c.1963T>A MANE Select NP_000518.1:p.Phe655Ile
NM_001195798.2:c.1963T>A NP_001182727.1:p.Phe655Ile
NM_001195799.2:c.1840T>A NP_001182728.1:p.Phe614Ile
NM_001195800.2:c.1459T>A NP_001182729.1:p.Phe487Ile
NM_001195803.2:c.1582T>A NP_001182732.1:p.Phe528Ile