Canonical Allele Identifier: CA404098388
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs2147286817

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129529T>C , CM000681.2:g.11129529T>C GRCh38
NC_000019.9:g.11240205T>C , CM000681.1:g.11240205T>C GRCh37
NC_000019.8:g.11101205T>C NCBI36
NG_009060.1:g.45149T>C , LRG_274:g.45149T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2664T>C ENSP00000252444.6:p.Leu888=
ENST00000559340.2:c.*475T>C ENSP00000453696.2:n.*475T>C
ENST00000560467.2:c.2286T>C ENSP00000453513.2:p.Leu762=
ENST00000558518.6:c.2406T>C MANE Select ENSP00000454071.1:p.Leu802=
ENST00000252444.9:c.2660T>C
ENST00000455727.6:c.1902T>C ENSP00000397829.2:p.Leu634=
ENST00000535915.5:c.2283T>C ENSP00000440520.1:p.Leu761=
ENST00000545707.5:c.1872T>C ENSP00000437639.1:p.Leu624=
ENST00000557933.5:c.2468T>C ENSP00000453557.1:p.Phe823Ser
ENST00000558013.5:c.2406T>C ENSP00000453346.1:p.Leu802=
ENST00000558518.5:c.2406T>C ENSP00000454071.1:p.Leu802=
ENST00000560628.1:n.108+1875T>C
NM_000527.4:c.2406T>C , LRG_274t1:c.2406T>C NP_000518.1:p.Leu802=
NM_001195798.1:c.2406T>C NP_001182727.1:p.Leu802=
NM_001195799.1:c.2283T>C NP_001182728.1:p.Leu761=
NM_001195800.1:c.1902T>C NP_001182729.1:p.Leu634=
NM_001195803.1:c.1872T>C NP_001182732.1:p.Leu624=
XM_011528010.1:c.2328T>C XP_011526312.1:p.Leu776=
XM_011528011.1:c.2025T>C XP_011526313.1:p.Leu675=
XR_244074.2:n.2416T>C
XM_011528010.2:c.2328T>C XP_011526312.1:p.Leu776=
XR_001753685.2:n.2740T>C
XR_001753686.2:n.2383T>C
NM_000527.5:c.2406T>C MANE Select NP_000518.1:p.Leu802=
NM_001195798.2:c.2406T>C NP_001182727.1:p.Leu802=
NM_001195799.2:c.2283T>C NP_001182728.1:p.Leu761=
NM_001195800.2:c.1902T>C NP_001182729.1:p.Leu634=
NM_001195803.2:c.1872T>C NP_001182732.1:p.Leu624=