Canonical Allele Identifier: CA10585797

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252246
• ClinVar RCV Id: RCV000238120 ; RCV001804978
• dbSNP Id: rs879255154
• gnomAD v2: 19-11233880-C-T
• gnomAD v3: 19-11123204-C-T
• gnomAD v4: 19-11123204-C-T
• MyVariant Identifiers: chr19:g.11233880C>T (hg19) ; chr19:g.11123204C>T (hg38)
• PubMed: PMID:23375686

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123204C>T , CM000681.2:g.11123204C>T	GRCh38
NC_000019.9:g.11233880C>T , CM000681.1:g.11233880C>T	GRCh37
NC_000019.8:g.11094880C>T	NCBI36
NG_009060.1:g.38824C>T , LRG_274:g.38824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2429C>T	ENSP00000252444.6:p.Thr810Ile
ENST00000559340.2:c.*240C>T	ENSP00000453696.2:n.*240C>T
ENST00000560467.2:c.2051C>T	ENSP00000453513.2:p.Thr684Ile
ENST00000558518.6:c.2171C>T MANE Select	ENSP00000454071.1:p.Thr724Ile
ENST00000252444.9:c.2425C>T
ENST00000455727.6:c.1667C>T	ENSP00000397829.2:p.Thr556Ile
ENST00000535915.5:c.2048C>T	ENSP00000440520.1:p.Thr683Ile
ENST00000545707.5:c.1637C>T	ENSP00000437639.1:p.Thr546Ile
ENST00000557933.5:c.2171C>T	ENSP00000453557.1:p.Thr724Ile
ENST00000558013.5:c.2171C>T	ENSP00000453346.1:p.Thr724Ile
ENST00000558518.5:c.2171C>T	ENSP00000454071.1:p.Thr724Ile
NM_000527.4:c.2171C>T , LRG_274t1:c.2171C>T	NP_000518.1:p.Thr724Ile
NM_001195798.1:c.2171C>T	NP_001182727.1:p.Thr724Ile
NM_001195799.1:c.2048C>T	NP_001182728.1:p.Thr683Ile
NM_001195800.1:c.1667C>T	NP_001182729.1:p.Thr556Ile
NM_001195803.1:c.1637C>T	NP_001182732.1:p.Thr546Ile
XM_011528010.1:c.2171C>T	XP_011526312.1:p.Thr724Ile
XM_011528011.1:c.1790C>T	XP_011526313.1:p.Thr597Ile
XR_244074.2:n.2181C>T
XM_011528010.2:c.2171C>T	XP_011526312.1:p.Thr724Ile
XR_001753685.2:n.2505C>T
XR_001753686.2:n.2148C>T
NM_000527.5:c.2171C>T MANE Select	NP_000518.1:p.Thr724Ile
NM_001195798.2:c.2171C>T	NP_001182727.1:p.Thr724Ile
NM_001195799.2:c.2048C>T	NP_001182728.1:p.Thr683Ile
NM_001195800.2:c.1667C>T	NP_001182729.1:p.Thr556Ile
NM_001195803.2:c.1637C>T	NP_001182732.1:p.Thr546Ile