Canonical Allele Identifier: CA10584711

Gene: LDLR LDLR-AS1

Linked Data

• ClinVar Variation Id: 250957
• ClinVar RCV Id: RCV000238366 ; RCV001181021 ; RCV001800603
• dbSNP Id: rs747068848
• gnomAD v4: 19-11089448-T-C
• MyVariant Identifiers: chr19:g.11200124T>C (hg19) ; chr19:g.11089448T>C (hg38)
• PubMed: PMID:22881376 ; PMID:25248394
• ERepo: CA10584711/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089448T>C , CM000681.2:g.11089448T>C	GRCh38
NC_000019.9:g.11200124T>C , CM000681.1:g.11200124T>C	GRCh37
NC_000019.8:g.11061124T>C	NCBI36
NG_009060.1:g.5068T>C , LRG_274:g.5068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559340.2:c.-101T>C (LDLR)	ENSP00000453696.2:n.-101T>C
ENST00000558518.5:c.-101T>C (LDLR)	ENSP00000454071.1:n.-101T>C
NM_000527.4:c.-101T>C , LRG_274t1:c.-101T>C (LDLR)	NP_000518.1:n.-101T>C
NM_001195798.1:c.-101T>C (LDLR)	NP_001182727.1:n.-101T>C
NM_001195799.1:c.-101T>C (LDLR)	NP_001182728.1:n.-101T>C
NM_001195800.1:c.-101T>C (LDLR)	NP_001182729.1:n.-101T>C
NM_001195803.1:c.-101T>C (LDLR)	NP_001182732.1:n.-101T>C
XM_011528010.1:c.-101T>C (LDLR)	XP_011526312.1:n.-101T>C
XM_011528011.1:c.-101T>C (LDLR)	XP_011526313.1:n.-101T>C
XR_244074.2:n.50T>C (LDLR)
XM_011528010.2:c.-101T>C (LDLR)	XP_011526312.1:n.-101T>C
XR_001753685.2:n.17T>C (LDLR)
XR_001753686.2:n.17T>C (LDLR)
NR_163945.1:n.212A>G (LDLR-AS1)