Canonical Allele Identifier: CA023628
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3702
dbSNP Id: rs28942084

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120436C>T , CM000681.2:g.11120436C>T GRCh38
NC_000019.9:g.11231112C>T , CM000681.1:g.11231112C>T GRCh37
NC_000019.8:g.11092112C>T NCBI36
NG_009060.1:g.36056C>T , LRG_274:g.36056C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000558518.6:c.2054C>T MANE Select ENSP00000454071.1:p.Pro685Leu
ENST00000252444.9:n.2308C>T
ENST00000455727.6:c.1550C>T ENSP00000397829.2:p.Pro517Leu
ENST00000535915.5:c.1931C>T ENSP00000440520.1:p.Pro644Leu
ENST00000545707.5:c.1606+203C>T ENSP00000437639.1:n.1606+203C>T
ENST00000557933.5:c.2054C>T ENSP00000453557.1:p.Pro685Leu
ENST00000558013.5:c.2054C>T ENSP00000453346.1:p.Pro685Leu
ENST00000558518.5:c.2054C>T ENSP00000454071.1:p.Pro685Leu
NM_000527.4:c.2054C>T , LRG_274t1:c.2054C>T NP_000518.1:p.Pro685Leu
NM_001195798.1:c.2054C>T NP_001182727.1:p.Pro685Leu
NM_001195799.1:c.1931C>T NP_001182728.1:p.Pro644Leu
NM_001195800.1:c.1550C>T NP_001182729.1:p.Pro517Leu
NM_001195803.1:c.1606+203C>T NP_001182732.1:n.1606+203C>T
XM_011528010.1:c.2054C>T XP_011526312.1:p.Pro685Leu
XM_011528011.1:c.1673C>T XP_011526313.1:p.Pro558Leu
XR_244074.2:n.2064C>T
XM_011528010.2:c.2054C>T XP_011526312.1:p.Pro685Leu
XR_001753685.2:n.2171C>T
XR_001753686.2:n.2031C>T
NM_000527.5:c.2054C>T MANE Select NP_000518.1:p.Pro685Leu
NM_001195798.2:c.2054C>T NP_001182727.1:p.Pro685Leu
NM_001195799.2:c.1931C>T NP_001182728.1:p.Pro644Leu
NM_001195800.2:c.1550C>T NP_001182729.1:p.Pro517Leu
NM_001195803.2:c.1606+203C>T NP_001182732.1:n.1606+203C>T