Canonical Allele Identifier: CA404093960
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120504A>C , CM000681.2:g.11120504A>C GRCh38
NC_000019.9:g.11231180A>C , CM000681.1:g.11231180A>C GRCh37
NC_000019.8:g.11092180A>C NCBI36
NG_009060.1:g.36124A>C , LRG_274:g.36124A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2380A>C ENSP00000252444.6:p.Met794Leu
ENST00000559340.2:c.*191A>C ENSP00000453696.2:n.*191A>C
ENST00000560467.2:c.2002A>C ENSP00000453513.2:p.Met668Leu
ENST00000558518.6:c.2122A>C MANE Select ENSP00000454071.1:p.Met708Leu
ENST00000252444.9:c.2376A>C
ENST00000455727.6:c.1618A>C ENSP00000397829.2:p.Met540Leu
ENST00000535915.5:c.1999A>C ENSP00000440520.1:p.Met667Leu
ENST00000545707.5:c.1606+271A>C ENSP00000437639.1:n.1606+271A>C
ENST00000557933.5:c.2122A>C ENSP00000453557.1:p.Met708Leu
ENST00000558013.5:c.2122A>C ENSP00000453346.1:p.Met708Leu
ENST00000558518.5:c.2122A>C ENSP00000454071.1:p.Met708Leu
NM_000527.4:c.2122A>C , LRG_274t1:c.2122A>C NP_000518.1:p.Met708Leu
NM_001195798.1:c.2122A>C NP_001182727.1:p.Met708Leu
NM_001195799.1:c.1999A>C NP_001182728.1:p.Met667Leu
NM_001195800.1:c.1618A>C NP_001182729.1:p.Met540Leu
NM_001195803.1:c.1606+271A>C NP_001182732.1:n.1606+271A>C
XM_011528010.1:c.2122A>C XP_011526312.1:p.Met708Leu
XM_011528011.1:c.1741A>C XP_011526313.1:p.Met581Leu
XR_244074.2:n.2132A>C
XM_011528010.2:c.2122A>C XP_011526312.1:p.Met708Leu
XR_001753685.2:n.2239A>C
XR_001753686.2:n.2099A>C
NM_000527.5:c.2122A>C MANE Select NP_000518.1:p.Met708Leu
NM_001195798.2:c.2122A>C NP_001182727.1:p.Met708Leu
NM_001195799.2:c.1999A>C NP_001182728.1:p.Met667Leu
NM_001195800.2:c.1618A>C NP_001182729.1:p.Met540Leu
NM_001195803.2:c.1606+271A>C NP_001182732.1:n.1606+271A>C