Canonical Allele Identifier: CA10585615

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252034
• ClinVar RCV Id: RCV000237454
• dbSNP Id: rs879255024
• MyVariant Identifiers: chr19:g.11227622T>C (hg19) ; chr19:g.11116946T>C (hg38)
• PubMed: PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116946T>C , CM000681.2:g.11116946T>C	GRCh38
NC_000019.9:g.11227622T>C , CM000681.1:g.11227622T>C	GRCh37
NC_000019.8:g.11088622T>C	NCBI36
NG_009060.1:g.32566T>C , LRG_274:g.32566T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2051T>C	ENSP00000252444.6:p.Ile684Thr
ENST00000559340.2:c.1705+734T>C	ENSP00000453696.2:n.1705+734T>C
ENST00000560467.2:c.1673T>C	ENSP00000453513.2:p.Ile558Thr
ENST00000558518.6:c.1793T>C MANE Select	ENSP00000454071.1:p.Ile598Thr
ENST00000252444.9:c.2047T>C
ENST00000455727.6:c.1289T>C	ENSP00000397829.2:p.Ile430Thr
ENST00000535915.5:c.1670T>C	ENSP00000440520.1:p.Ile557Thr
ENST00000545707.5:c.1412T>C	ENSP00000437639.1:p.Ile471Thr
ENST00000557933.5:c.1793T>C	ENSP00000453557.1:p.Ile598Thr
ENST00000558013.5:c.1793T>C	ENSP00000453346.1:p.Ile598Thr
ENST00000558518.5:c.1793T>C	ENSP00000454071.1:p.Ile598Thr
ENST00000559340.1:c.426+734T>C
NM_000527.4:c.1793T>C , LRG_274t1:c.1793T>C	NP_000518.1:p.Ile598Thr
NM_001195798.1:c.1793T>C	NP_001182727.1:p.Ile598Thr
NM_001195799.1:c.1670T>C	NP_001182728.1:p.Ile557Thr
NM_001195800.1:c.1289T>C	NP_001182729.1:p.Ile430Thr
NM_001195803.1:c.1412T>C	NP_001182732.1:p.Ile471Thr
XM_011528010.1:c.1793T>C	XP_011526312.1:p.Ile598Thr
XM_011528011.1:c.1412T>C	XP_011526313.1:p.Ile471Thr
XR_244074.2:n.1855+734T>C
XM_011528010.2:c.1793T>C	XP_011526312.1:p.Ile598Thr
XR_001753685.2:n.1910T>C
XR_001753686.2:n.1822+734T>C
NM_000527.5:c.1793T>C MANE Select	NP_000518.1:p.Ile598Thr
NM_001195798.2:c.1793T>C	NP_001182727.1:p.Ile598Thr
NM_001195799.2:c.1670T>C	NP_001182728.1:p.Ile557Thr
NM_001195800.2:c.1289T>C	NP_001182729.1:p.Ile430Thr
NM_001195803.2:c.1412T>C	NP_001182732.1:p.Ile471Thr