Canonical Allele Identifier: CA040016

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252295
• ClinVar RCV Id: RCV000238445 ; RCV001523921 ; RCV001558972 ; RCV002247687 ; RCV003372668
• dbSNP Id: rs764493597
• ExAC: 19:11238747 T / C
• gnomAD v2: 19-11238747-T-C
• gnomAD v3: 19-11128071-T-C
• gnomAD v4: 19-11128071-T-C
• MyVariant Identifiers: chr19:g.11238747T>C (hg19) ; chr19:g.11128071T>C (hg38)
• PubMed: PMID:19318025 ; PMID:19446849
• ERepo: CA040016/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128071T>C , CM000681.2:g.11128071T>C	GRCh38
NC_000019.9:g.11238747T>C , CM000681.1:g.11238747T>C	GRCh37
NC_000019.8:g.11099747T>C	NCBI36
NG_009060.1:g.43691T>C , LRG_274:g.43691T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2633T>C	ENSP00000252444.6:p.Ile878Thr
ENST00000559340.2:c.*444T>C	ENSP00000453696.2:n.*444T>C
ENST00000560467.2:c.2255T>C	ENSP00000453513.2:p.Ile752Thr
ENST00000558518.6:c.2375T>C MANE Select	ENSP00000454071.1:p.Ile792Thr
ENST00000252444.9:c.2629T>C
ENST00000455727.6:c.1871T>C	ENSP00000397829.2:p.Ile624Thr
ENST00000535915.5:c.2252T>C	ENSP00000440520.1:p.Ile751Thr
ENST00000545707.5:c.1841T>C	ENSP00000437639.1:p.Ile614Thr
ENST00000557933.5:c.2375T>C	ENSP00000453557.1:p.Ile792Thr
ENST00000558013.5:c.2375T>C	ENSP00000453346.1:p.Ile792Thr
ENST00000558518.5:c.2375T>C	ENSP00000454071.1:p.Ile792Thr
ENST00000560628.1:n.108+417T>C
NM_000527.4:c.2375T>C , LRG_274t1:c.2375T>C	NP_000518.1:p.Ile792Thr
NM_001195798.1:c.2375T>C	NP_001182727.1:p.Ile792Thr
NM_001195799.1:c.2252T>C	NP_001182728.1:p.Ile751Thr
NM_001195800.1:c.1871T>C	NP_001182729.1:p.Ile624Thr
NM_001195803.1:c.1841T>C	NP_001182732.1:p.Ile614Thr
XM_011528010.1:c.2312-1442T>C	XP_011526312.1:n.2312-1442T>C
XM_011528011.1:c.1994T>C	XP_011526313.1:p.Ile665Thr
XR_244074.2:n.2385T>C
XM_011528010.2:c.2312-1442T>C	XP_011526312.1:n.2312-1442T>C
XR_001753685.2:n.2709T>C
XR_001753686.2:n.2352T>C
NM_000527.5:c.2375T>C MANE Select	NP_000518.1:p.Ile792Thr
NM_001195798.2:c.2375T>C	NP_001182727.1:p.Ile792Thr
NM_001195799.2:c.2252T>C	NP_001182728.1:p.Ile751Thr
NM_001195800.2:c.1871T>C	NP_001182729.1:p.Ile624Thr
NM_001195803.2:c.1841T>C	NP_001182732.1:p.Ile614Thr