Canonical Allele Identifier: CA404099321
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1455439
ClinVar RCV Id: RCV001946589
dbSNP Id: rs2077688650

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129608C>T , CM000681.2:g.11129608C>T GRCh38
NC_000019.9:g.11240284C>T , CM000681.1:g.11240284C>T GRCh37
NC_000019.8:g.11101284C>T NCBI36
NG_009060.1:g.45228C>T , LRG_274:g.45228C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2743C>T ENSP00000252444.6:p.Gln915Ter
ENST00000559340.2:c.*554C>T ENSP00000453696.2:n.*554C>T
ENST00000560467.2:c.2365C>T ENSP00000453513.2:p.Gln789Ter
ENST00000558518.6:c.2485C>T MANE Select ENSP00000454071.1:p.Gln829Ter
ENST00000252444.9:c.2739C>T
ENST00000455727.6:c.1981C>T ENSP00000397829.2:p.Gln661Ter
ENST00000535915.5:c.2362C>T ENSP00000440520.1:p.Gln788Ter
ENST00000545707.5:c.1951C>T ENSP00000437639.1:p.Gln651Ter
ENST00000557933.5:c.2547C>T ENSP00000453557.1:p.Ile849=
ENST00000558013.5:c.2485C>T ENSP00000453346.1:p.Gln829Ter
ENST00000558518.5:c.2485C>T ENSP00000454071.1:p.Gln829Ter
ENST00000560628.1:n.108+1954C>T
NM_000527.4:c.2485C>T , LRG_274t1:c.2485C>T NP_000518.1:p.Gln829Ter
NM_001195798.1:c.2485C>T NP_001182727.1:p.Gln829Ter
NM_001195799.1:c.2362C>T NP_001182728.1:p.Gln788Ter
NM_001195800.1:c.1981C>T NP_001182729.1:p.Gln661Ter
NM_001195803.1:c.1951C>T NP_001182732.1:p.Gln651Ter
XM_011528010.1:c.2407C>T XP_011526312.1:p.Gln803Ter
XM_011528011.1:c.2104C>T XP_011526313.1:p.Gln702Ter
XM_011528010.2:c.2407C>T XP_011526312.1:p.Gln803Ter
XR_001753685.2:n.2819C>T
XR_001753686.2:n.2462C>T
NM_000527.5:c.2485C>T MANE Select NP_000518.1:p.Gln829Ter
NM_001195798.2:c.2485C>T NP_001182727.1:p.Gln829Ter
NM_001195799.2:c.2362C>T NP_001182728.1:p.Gln788Ter
NM_001195800.2:c.1981C>T NP_001182729.1:p.Gln661Ter
NM_001195803.2:c.1951C>T NP_001182732.1:p.Gln651Ter