Canonical Allele Identifier: CA2322775431
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120211C= , CM000681.2:g.11120211C= GRCh38
NC_000019.9:g.11230887C= , CM000681.1:g.11230887C= GRCh37
NC_000019.8:g.11091887C= NCBI36
NG_009060.1:g.35831C= , LRG_274:g.35831C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2223C= ENSP00000252444.6:p.Phe741=
ENST00000559340.2:c.*34C= ENSP00000453696.2:n.*34C=
ENST00000560467.2:c.1845C= ENSP00000453513.2:p.Phe615=
ENST00000558518.6:c.1965C= MANE Select ENSP00000454071.1:p.Phe655=
ENST00000252444.9:c.2219C=
ENST00000455727.6:c.1461C= ENSP00000397829.2:p.Phe487=
ENST00000535915.5:c.1842C= ENSP00000440520.1:p.Phe614=
ENST00000545707.5:c.1584C= ENSP00000437639.1:p.Phe528=
ENST00000557933.5:c.1965C= ENSP00000453557.1:p.Phe655=
ENST00000558013.5:c.1965C= ENSP00000453346.1:p.Phe655=
ENST00000558518.5:c.1965C= ENSP00000454071.1:p.Phe655=
ENST00000559340.1:c.546C=
NM_000527.4:c.1965C= , LRG_274t1:c.1965C= NP_000518.1:p.Phe655=
NM_001195798.1:c.1965C= NP_001182727.1:p.Phe655=
NM_001195799.1:c.1842C= NP_001182728.1:p.Phe614=
NM_001195800.1:c.1461C= NP_001182729.1:p.Phe487=
NM_001195803.1:c.1584C= NP_001182732.1:p.Phe528=
XM_011528010.1:c.1965C= XP_011526312.1:p.Phe655=
XM_011528011.1:c.1584C= XP_011526313.1:p.Phe528=
XR_244074.2:n.1975C=
XM_011528010.2:c.1965C= XP_011526312.1:p.Phe655=
XR_001753685.2:n.2082C=
XR_001753686.2:n.1942C=
NM_000527.5:c.1965C= MANE Select NP_000518.1:p.Phe655=
NM_001195798.2:c.1965C= NP_001182727.1:p.Phe655=
NM_001195799.2:c.1842C= NP_001182728.1:p.Phe614=
NM_001195800.2:c.1461C= NP_001182729.1:p.Phe487=
NM_001195803.2:c.1584C= NP_001182732.1:p.Phe528=