Canonical Allele Identifier: CA023677

Gene: LDLR

Linked Data

• ClinVar Variation Id: 36462
• ClinVar RCV Id: RCV000030135 ; RCV000058923 ; RCV000855648 ; RCV001079897
• dbSNP Id: rs137853964
• ExAC: 19:11240278 G / A
• gnomAD v2: 19-11240278-G-A
• gnomAD v3: 19-11129602-G-A
• gnomAD v4: 19-11129602-G-A
• MyVariant Identifiers: chr19:g.11240278G>A (hg19) ; chr19:g.11129602G>A (hg38)
• PubMed: PMID:1301956 ; PMID:3475071 ; PMID:4083361 ; PMID:10735632 ; PMID:11462246 ; PMID:15199436 ; PMID:15701167 ; PMID:15823288 ; PMID:18400033 ; PMID:19026292 ; PMID:19602640 ; PMID:19843101 ; PMID:20506408 ; PMID:21310417 ; PMID:22294733 ; PMID:22698793 ; PMID:23054246 ; PMID:23375686 ; PMID:23669246 ; PMID:23680767 ; PMID:24082139 ; PMID:24503134 ; PMID:24956927 ; PMID:25333069 ; PMID:25637381 ; PMID:25647241 ; PMID:27765764 ; PMID:28104544
• ERepo: CA023677/MONDO:0007750/013

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2737G>A	ENSP00000252444.6:p.Val913Ile
ENST00000559340.2:c.*548G>A	ENSP00000453696.2:n.*548G>A
ENST00000560467.2:c.2359G>A	ENSP00000453513.2:p.Val787Ile
ENST00000558518.6:c.2479G>A MANE Select	ENSP00000454071.1:p.Val827Ile
ENST00000252444.9:c.2733G>A
ENST00000455727.6:c.1975G>A	ENSP00000397829.2:p.Val659Ile
ENST00000535915.5:c.2356G>A	ENSP00000440520.1:p.Val786Ile
ENST00000545707.5:c.1945G>A	ENSP00000437639.1:p.Val649Ile
ENST00000557933.5:c.2541G>A	ENSP00000453557.1:p.Pro847=
ENST00000558013.5:c.2479G>A	ENSP00000453346.1:p.Val827Ile
ENST00000558518.5:c.2479G>A	ENSP00000454071.1:p.Val827Ile
ENST00000560628.1:n.108+1948G>A
NM_000527.4:c.2479G>A , LRG_274t1:c.2479G>A	NP_000518.1:p.Val827Ile
NM_001195798.1:c.2479G>A	NP_001182727.1:p.Val827Ile
NM_001195799.1:c.2356G>A	NP_001182728.1:p.Val786Ile
NM_001195800.1:c.1975G>A	NP_001182729.1:p.Val659Ile
NM_001195803.1:c.1945G>A	NP_001182732.1:p.Val649Ile
XM_011528010.1:c.2401G>A	XP_011526312.1:p.Val801Ile
XM_011528011.1:c.2098G>A	XP_011526313.1:p.Val700Ile
XM_011528010.2:c.2401G>A	XP_011526312.1:p.Val801Ile
XR_001753685.2:n.2813G>A
XR_001753686.2:n.2456G>A
NM_000527.5:c.2479G>A MANE Select	NP_000518.1:p.Val827Ile
NM_001195798.2:c.2479G>A	NP_001182727.1:p.Val827Ile
NM_001195799.2:c.2356G>A	NP_001182728.1:p.Val786Ile
NM_001195800.2:c.1975G>A	NP_001182729.1:p.Val659Ile
NM_001195803.2:c.1945G>A	NP_001182732.1:p.Val649Ile