Canonical Allele Identifier: CA034196

Gene: LDLR

Linked Data

• ClinVar Variation Id: 697962
• ClinVar RCV Id: RCV000865095 ; RCV004002955
• dbSNP Id: rs780942671
• ExAC: 19:11224253 C / T
• gnomAD v2: 19-11224253-C-T
• gnomAD v4: 19-11113577-C-T
• MyVariant Identifiers: chr19:g.11224253C>T (hg19) ; chr19:g.11113577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113577C>T , CM000681.2:g.11113577C>T	GRCh38
NC_000019.9:g.11224253C>T , CM000681.1:g.11224253C>T	GRCh37
NC_000019.8:g.11085253C>T	NCBI36
NG_009060.1:g.29197C>T , LRG_274:g.29197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1659C>T	ENSP00000252444.6:p.Thr553=
ENST00000559340.2:c.1401C>T	ENSP00000453696.2:p.Thr467=
ENST00000560467.2:c.1281C>T	ENSP00000453513.2:p.Thr427=
ENST00000558518.6:c.1401C>T MANE Select	ENSP00000454071.1:p.Thr467=
ENST00000252444.9:c.1655C>T
ENST00000455727.6:c.897C>T	ENSP00000397829.2:p.Thr299=
ENST00000535915.5:c.1278C>T	ENSP00000440520.1:p.Thr426=
ENST00000545707.5:c.1020C>T	ENSP00000437639.1:p.Thr340=
ENST00000557933.5:c.1401C>T	ENSP00000453557.1:p.Thr467=
ENST00000558013.5:c.1401C>T	ENSP00000453346.1:p.Thr467=
ENST00000558518.5:c.1401C>T	ENSP00000454071.1:p.Thr467=
ENST00000559340.1:c.122C>T
ENST00000560467.1:c.881C>T
NM_000527.4:c.1401C>T , LRG_274t1:c.1401C>T	NP_000518.1:p.Thr467=
NM_001195798.1:c.1401C>T	NP_001182727.1:p.Thr467=
NM_001195799.1:c.1278C>T	NP_001182728.1:p.Thr426=
NM_001195800.1:c.897C>T	NP_001182729.1:p.Thr299=
NM_001195803.1:c.1020C>T	NP_001182732.1:p.Thr340=
XM_011528010.1:c.1401C>T	XP_011526312.1:p.Thr467=
XM_011528011.1:c.1020C>T	XP_011526313.1:p.Thr340=
XR_244074.2:n.1551C>T
XM_011528010.2:c.1401C>T	XP_011526312.1:p.Thr467=
XR_001753685.2:n.1518C>T
XR_001753686.2:n.1518C>T
NM_000527.5:c.1401C>T MANE Select	NP_000518.1:p.Thr467=
NM_001195798.2:c.1401C>T	NP_001182727.1:p.Thr467=
NM_001195799.2:c.1278C>T	NP_001182728.1:p.Thr426=
NM_001195800.2:c.897C>T	NP_001182729.1:p.Thr299=
NM_001195803.2:c.1020C>T	NP_001182732.1:p.Thr340=