Canonical Allele Identifier: CA023628

Gene: LDLR

Linked Data

• ClinVar Variation Id: 3702
• ClinVar RCV Id: RCV000003891 ; RCV000162007 ; RCV000775085 ; RCV000844731 ; RCV002415395
• dbSNP Id: rs28942084
• ExAC: 19:11231112 C / T
• gnomAD v2: 19-11231112-C-T
• gnomAD v3: 19-11120436-C-T
• gnomAD v4: 19-11120436-C-T
• MyVariant Identifiers: chr19:g.11231112C>T (hg19) ; chr19:g.11120436C>T (hg38)
• PubMed: PMID:1464748 ; PMID:1493640 ; PMID:1830890 ; PMID:1884514 ; PMID:2726768 ; PMID:2920733 ; PMID:7583548 ; PMID:9026534 ; PMID:9763532 ; PMID:9974426 ; PMID:11754108 ; PMID:15199436 ; PMID:19318025 ; PMID:19446849 ; PMID:20828696 ; PMID:21310417 ; PMID:21382890 ; PMID:22390909 ; PMID:22698793 ; PMID:23375686 ; PMID:23680767 ; PMID:25487149 ; PMID:25647241 ; PMID:26343872 ; PMID:26892515 ; PMID:27765764

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
ENST00000252444.10:c.2312C>T	ENSP00000252444.6:p.Pro771Leu
ENST00000559340.2:c.*123C>T	ENSP00000453696.2:n.*123C>T
ENST00000560467.2:c.1934C>T	ENSP00000453513.2:p.Pro645Leu
ENST00000558518.6:c.2054C>T MANE Select	ENSP00000454071.1:p.Pro685Leu
ENST00000252444.9:c.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