Canonical Allele Identifier: CA023482

Gene: LDLR

Linked Data

• ClinVar Variation Id: 183114
• ClinVar RCV Id: RCV000161986 ; RCV000237809 ; RCV001041965 ; RCV002390393 ; RCV003895080
• dbSNP Id: rs730882101
• ExAC: 19:11224245 T / A
• gnomAD v2: 19-11224245-T-A
• gnomAD v4: 19-11113569-T-A
• MyVariant Identifiers: chr19:g.11224245T>A (hg19) ; chr19:g.11113569T>A (hg38)
• ERepo: CA023482/MONDO:0007750/013
• PubMed: PMID:15199436 ; PMID:25647241

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113569T>A , CM000681.2:g.11113569T>A	GRCh38
NC_000019.9:g.11224245T>A , CM000681.1:g.11224245T>A	GRCh37
NC_000019.8:g.11085245T>A	NCBI36
NG_009060.1:g.29189T>A , LRG_274:g.29189T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1651T>A	ENSP00000252444.6:p.Tyr551Asn
ENST00000559340.2:c.1393T>A	ENSP00000453696.2:p.Tyr465Asn
ENST00000560467.2:c.1273T>A	ENSP00000453513.2:p.Tyr425Asn
ENST00000558518.6:c.1393T>A MANE Select	ENSP00000454071.1:p.Tyr465Asn
ENST00000252444.9:c.1647T>A
ENST00000455727.6:c.889T>A	ENSP00000397829.2:p.Tyr297Asn
ENST00000535915.5:c.1270T>A	ENSP00000440520.1:p.Tyr424Asn
ENST00000545707.5:c.1012T>A	ENSP00000437639.1:p.Tyr338Asn
ENST00000557933.5:c.1393T>A	ENSP00000453557.1:p.Tyr465Asn
ENST00000558013.5:c.1393T>A	ENSP00000453346.1:p.Tyr465Asn
ENST00000558518.5:c.1393T>A	ENSP00000454071.1:p.Tyr465Asn
ENST00000559340.1:c.114T>A
ENST00000560467.1:c.873T>A
NM_000527.4:c.1393T>A , LRG_274t1:c.1393T>A	NP_000518.1:p.Tyr465Asn
NM_001195798.1:c.1393T>A	NP_001182727.1:p.Tyr465Asn
NM_001195799.1:c.1270T>A	NP_001182728.1:p.Tyr424Asn
NM_001195800.1:c.889T>A	NP_001182729.1:p.Tyr297Asn
NM_001195803.1:c.1012T>A	NP_001182732.1:p.Tyr338Asn
XM_011528010.1:c.1393T>A	XP_011526312.1:p.Tyr465Asn
XM_011528011.1:c.1012T>A	XP_011526313.1:p.Tyr338Asn
XR_244074.2:n.1543T>A
XM_011528010.2:c.1393T>A	XP_011526312.1:p.Tyr465Asn
XR_001753685.2:n.1510T>A
XR_001753686.2:n.1510T>A
NM_000527.5:c.1393T>A MANE Select	NP_000518.1:p.Tyr465Asn
NM_001195798.2:c.1393T>A	NP_001182727.1:p.Tyr465Asn
NM_001195799.2:c.1270T>A	NP_001182728.1:p.Tyr424Asn
NM_001195800.2:c.889T>A	NP_001182729.1:p.Tyr297Asn
NM_001195803.2:c.1012T>A	NP_001182732.1:p.Tyr338Asn