Canonical Allele Identifier: CA043532

Gene: LDLR

Linked Data

• ClinVar Variation Id: 226325
• ClinVar RCV Id: RCV000211567 ; RCV001800540 ; RCV002327075 ; RCV002229196
• dbSNP Id: rs199774121
• ExAC: 19:11216011 C / A
• gnomAD v2: 19-11216011-C-A
• gnomAD v4: 19-11105335-C-A
• MyVariant Identifiers: chr19:g.11216011C>A (hg19) ; chr19:g.11105335C>A (hg38)
• PubMed: PMID:9212177 ; PMID:9452078 ; PMID:9767373 ; PMID:10532689 ; PMID:12436241 ; PMID:19318025

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105335C>A , CM000681.2:g.11105335C>A	GRCh38
NC_000019.9:g.11216011C>A , CM000681.1:g.11216011C>A	GRCh37
NC_000019.8:g.11077011C>A	NCBI36
NG_009060.1:g.20955C>A , LRG_274:g.20955C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.687C>A	ENSP00000252444.6:p.Cys229Ter
ENST00000559340.2:c.429C>A	ENSP00000453696.2:p.Cys143Ter
ENST00000560467.2:c.429C>A	ENSP00000453513.2:p.Cys143Ter
ENST00000558518.6:c.429C>A MANE Select	ENSP00000454071.1:p.Cys143Ter
ENST00000252444.9:c.683C>A
ENST00000455727.6:c.314-2057C>A	ENSP00000397829.2:n.314-2057C>A
ENST00000535915.5:c.306C>A	ENSP00000440520.1:p.Cys102Ter
ENST00000545707.5:c.314-1230C>A	ENSP00000437639.1:n.314-1230C>A
ENST00000557933.5:c.429C>A	ENSP00000453557.1:p.Cys143Ter
ENST00000558013.5:c.429C>A	ENSP00000453346.1:p.Cys143Ter
ENST00000558518.5:c.429C>A	ENSP00000454071.1:p.Cys143Ter
ENST00000560467.1:c.29C>A
NM_000527.4:c.429C>A , LRG_274t1:c.429C>A	NP_000518.1:p.Cys143Ter
NM_001195798.1:c.429C>A	NP_001182727.1:p.Cys143Ter
NM_001195799.1:c.306C>A	NP_001182728.1:p.Cys102Ter
NM_001195800.1:c.314-2057C>A	NP_001182729.1:n.314-2057C>A
NM_001195803.1:c.314-1230C>A	NP_001182732.1:n.314-1230C>A
XM_011528010.1:c.429C>A	XP_011526312.1:p.Cys143Ter
XM_011528011.1:c.314-1230C>A	XP_011526313.1:n.314-1230C>A
XR_244074.2:n.579C>A
XM_011528010.2:c.429C>A	XP_011526312.1:p.Cys143Ter
XR_001753685.2:n.546C>A
XR_001753686.2:n.546C>A
NM_000527.5:c.429C>A MANE Select	NP_000518.1:p.Cys143Ter
NM_001195798.2:c.429C>A	NP_001182727.1:p.Cys143Ter
NM_001195799.2:c.306C>A	NP_001182728.1:p.Cys102Ter
NM_001195800.2:c.314-2057C>A	NP_001182729.1:n.314-2057C>A
NM_001195803.2:c.314-1230C>A	NP_001182732.1:n.314-1230C>A