Canonical Allele Identifier: CA10585425

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251812
• ClinVar RCV Id: RCV000237982
• dbSNP Id: rs879254879
• MyVariant Identifiers: chr19:g.11224213C>A (hg19) ; chr19:g.11113537C>A (hg38)
• PubMed: PMID:15241806 ; PMID:25378237
• ERepo: CA10585425/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113537C>A , CM000681.2:g.11113537C>A	GRCh38
NC_000019.9:g.11224213C>A , CM000681.1:g.11224213C>A	GRCh37
NC_000019.8:g.11085213C>A	NCBI36
NG_009060.1:g.29157C>A , LRG_274:g.29157C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1619C>A	ENSP00000252444.6:p.Thr540Asn
ENST00000559340.2:c.1361C>A	ENSP00000453696.2:p.Thr454Asn
ENST00000560467.2:c.1241C>A	ENSP00000453513.2:p.Thr414Asn
ENST00000558518.6:c.1361C>A MANE Select	ENSP00000454071.1:p.Thr454Asn
ENST00000252444.9:c.1615C>A
ENST00000455727.6:c.857C>A	ENSP00000397829.2:p.Thr286Asn
ENST00000535915.5:c.1238C>A	ENSP00000440520.1:p.Thr413Asn
ENST00000545707.5:c.980C>A	ENSP00000437639.1:p.Thr327Asn
ENST00000557933.5:c.1361C>A	ENSP00000453557.1:p.Thr454Asn
ENST00000558013.5:c.1361C>A	ENSP00000453346.1:p.Thr454Asn
ENST00000558518.5:c.1361C>A	ENSP00000454071.1:p.Thr454Asn
ENST00000559340.1:c.82C>A
ENST00000560467.1:c.841C>A
NM_000527.4:c.1361C>A , LRG_274t1:c.1361C>A	NP_000518.1:p.Thr454Asn
NM_001195798.1:c.1361C>A	NP_001182727.1:p.Thr454Asn
NM_001195799.1:c.1238C>A	NP_001182728.1:p.Thr413Asn
NM_001195800.1:c.857C>A	NP_001182729.1:p.Thr286Asn
NM_001195803.1:c.980C>A	NP_001182732.1:p.Thr327Asn
XM_011528010.1:c.1361C>A	XP_011526312.1:p.Thr454Asn
XM_011528011.1:c.980C>A	XP_011526313.1:p.Thr327Asn
XR_244074.2:n.1511C>A
XM_011528010.2:c.1361C>A	XP_011526312.1:p.Thr454Asn
XR_001753685.2:n.1478C>A
XR_001753686.2:n.1478C>A
NM_000527.5:c.1361C>A MANE Select	NP_000518.1:p.Thr454Asn
NM_001195798.2:c.1361C>A	NP_001182727.1:p.Thr454Asn
NM_001195799.2:c.1238C>A	NP_001182728.1:p.Thr413Asn
NM_001195800.2:c.857C>A	NP_001182729.1:p.Thr286Asn
NM_001195803.2:c.980C>A	NP_001182732.1:p.Thr327Asn