Canonical Allele Identifier: CA404099135
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129592T>A , CM000681.2:g.11129592T>A GRCh38
NC_000019.9:g.11240268T>A , CM000681.1:g.11240268T>A GRCh37
NC_000019.8:g.11101268T>A NCBI36
NG_009060.1:g.45212T>A , LRG_274:g.45212T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2727T>A ENSP00000252444.6:p.Phe909Leu
ENST00000559340.2:c.*538T>A ENSP00000453696.2:n.*538T>A
ENST00000560467.2:c.2349T>A ENSP00000453513.2:p.Phe783Leu
ENST00000558518.6:c.2469T>A MANE Select ENSP00000454071.1:p.Phe823Leu
ENST00000252444.9:c.2723T>A
ENST00000455727.6:c.1965T>A ENSP00000397829.2:p.Phe655Leu
ENST00000535915.5:c.2346T>A ENSP00000440520.1:p.Phe782Leu
ENST00000545707.5:c.1935T>A ENSP00000437639.1:p.Phe645Leu
ENST00000557933.5:c.2531T>A ENSP00000453557.1:p.Leu844Ter
ENST00000558013.5:c.2469T>A ENSP00000453346.1:p.Phe823Leu
ENST00000558518.5:c.2469T>A ENSP00000454071.1:p.Phe823Leu
ENST00000560628.1:n.108+1938T>A
NM_000527.4:c.2469T>A , LRG_274t1:c.2469T>A NP_000518.1:p.Phe823Leu
NM_001195798.1:c.2469T>A NP_001182727.1:p.Phe823Leu
NM_001195799.1:c.2346T>A NP_001182728.1:p.Phe782Leu
NM_001195800.1:c.1965T>A NP_001182729.1:p.Phe655Leu
NM_001195803.1:c.1935T>A NP_001182732.1:p.Phe645Leu
XM_011528010.1:c.2391T>A XP_011526312.1:p.Phe797Leu
XM_011528011.1:c.2088T>A XP_011526313.1:p.Phe696Leu
XM_011528010.2:c.2391T>A XP_011526312.1:p.Phe797Leu
XR_001753685.2:n.2803T>A
XR_001753686.2:n.2446T>A
NM_000527.5:c.2469T>A MANE Select NP_000518.1:p.Phe823Leu
NM_001195798.2:c.2469T>A NP_001182727.1:p.Phe823Leu
NM_001195799.2:c.2346T>A NP_001182728.1:p.Phe782Leu
NM_001195800.2:c.1965T>A NP_001182729.1:p.Phe655Leu
NM_001195803.2:c.1935T>A NP_001182732.1:p.Phe645Leu