Canonical Allele Identifier: CA404099245
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129602G>C , CM000681.2:g.11129602G>C GRCh38
NC_000019.9:g.11240278G>C , CM000681.1:g.11240278G>C GRCh37
NC_000019.8:g.11101278G>C NCBI36
NG_009060.1:g.45222G>C , LRG_274:g.45222G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2737G>C ENSP00000252444.6:p.Val913Leu
ENST00000559340.2:c.*548G>C ENSP00000453696.2:n.*548G>C
ENST00000560467.2:c.2359G>C ENSP00000453513.2:p.Val787Leu
ENST00000558518.6:c.2479G>C MANE Select ENSP00000454071.1:p.Val827Leu
ENST00000252444.9:c.2733G>C
ENST00000455727.6:c.1975G>C ENSP00000397829.2:p.Val659Leu
ENST00000535915.5:c.2356G>C ENSP00000440520.1:p.Val786Leu
ENST00000545707.5:c.1945G>C ENSP00000437639.1:p.Val649Leu
ENST00000557933.5:c.2541G>C ENSP00000453557.1:p.Pro847=
ENST00000558013.5:c.2479G>C ENSP00000453346.1:p.Val827Leu
ENST00000558518.5:c.2479G>C ENSP00000454071.1:p.Val827Leu
ENST00000560628.1:n.108+1948G>C
NM_000527.4:c.2479G>C , LRG_274t1:c.2479G>C NP_000518.1:p.Val827Leu
NM_001195798.1:c.2479G>C NP_001182727.1:p.Val827Leu
NM_001195799.1:c.2356G>C NP_001182728.1:p.Val786Leu
NM_001195800.1:c.1975G>C NP_001182729.1:p.Val659Leu
NM_001195803.1:c.1945G>C NP_001182732.1:p.Val649Leu
XM_011528010.1:c.2401G>C XP_011526312.1:p.Val801Leu
XM_011528011.1:c.2098G>C XP_011526313.1:p.Val700Leu
XM_011528010.2:c.2401G>C XP_011526312.1:p.Val801Leu
XR_001753685.2:n.2813G>C
XR_001753686.2:n.2456G>C
NM_000527.5:c.2479G>C MANE Select NP_000518.1:p.Val827Leu
NM_001195798.2:c.2479G>C NP_001182727.1:p.Val827Leu
NM_001195799.2:c.2356G>C NP_001182728.1:p.Val786Leu
NM_001195800.2:c.1975G>C NP_001182729.1:p.Val659Leu
NM_001195803.2:c.1945G>C NP_001182732.1:p.Val649Leu