Canonical Allele Identifier: CA10584886

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251187
• ClinVar RCV Id: RCV000238285 ; RCV000844734 ; RCV002347935
• dbSNP Id: rs875989899
• gnomAD v4: 19-11105279-C-T
• MyVariant Identifiers: chr19:g.11215955C>T (hg19) ; chr19:g.11105279C>T (hg38)
• PubMed: PMID:9974426 ; PMID:10978268 ; PMID:23375686 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105279C>T , CM000681.2:g.11105279C>T	GRCh38
NC_000019.9:g.11215955C>T , CM000681.1:g.11215955C>T	GRCh37
NC_000019.8:g.11076955C>T	NCBI36
NG_009060.1:g.20899C>T , LRG_274:g.20899C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.631C>T	ENSP00000252444.6:p.Gln211Ter
ENST00000559340.2:c.373C>T	ENSP00000453696.2:p.Gln125Ter
ENST00000560467.2:c.373C>T	ENSP00000453513.2:p.Gln125Ter
ENST00000558518.6:c.373C>T MANE Select	ENSP00000454071.1:p.Gln125Ter
ENST00000252444.9:c.627C>T
ENST00000455727.6:c.314-2113C>T	ENSP00000397829.2:n.314-2113C>T
ENST00000535915.5:c.250C>T	ENSP00000440520.1:p.Gln84Ter
ENST00000545707.5:c.314-1286C>T	ENSP00000437639.1:n.314-1286C>T
ENST00000557933.5:c.373C>T	ENSP00000453557.1:p.Gln125Ter
ENST00000558013.5:c.373C>T	ENSP00000453346.1:p.Gln125Ter
ENST00000558518.5:c.373C>T	ENSP00000454071.1:p.Gln125Ter
NM_000527.4:c.373C>T , LRG_274t1:c.373C>T	NP_000518.1:p.Gln125Ter
NM_001195798.1:c.373C>T	NP_001182727.1:p.Gln125Ter
NM_001195799.1:c.250C>T	NP_001182728.1:p.Gln84Ter
NM_001195800.1:c.314-2113C>T	NP_001182729.1:n.314-2113C>T
NM_001195803.1:c.314-1286C>T	NP_001182732.1:n.314-1286C>T
XM_011528010.1:c.373C>T	XP_011526312.1:p.Gln125Ter
XM_011528011.1:c.314-1286C>T	XP_011526313.1:n.314-1286C>T
XR_244074.2:n.523C>T
XM_011528010.2:c.373C>T	XP_011526312.1:p.Gln125Ter
XR_001753685.2:n.490C>T
XR_001753686.2:n.490C>T
NM_000527.5:c.373C>T MANE Select	NP_000518.1:p.Gln125Ter
NM_001195798.2:c.373C>T	NP_001182727.1:p.Gln125Ter
NM_001195799.2:c.250C>T	NP_001182728.1:p.Gln84Ter
NM_001195800.2:c.314-2113C>T	NP_001182729.1:n.314-2113C>T
NM_001195803.2:c.314-1286C>T	NP_001182732.1:n.314-1286C>T