Canonical Allele Identifier: CA023430

Gene: LDLR

Linked Data

• ClinVar Variation Id: 183109
• ClinVar RCV Id: RCV001211912 ; RCV001800473 ; RCV002336376
• dbSNP Id: rs730882099
• ExAC: 19:11223962 G / A
• gnomAD v2: 19-11223962-G-A
• gnomAD v3: 19-11113286-G-A
• gnomAD v4: 19-11113286-G-A
• MyVariant Identifiers: chr19:g.11223962G>A (hg19) ; chr19:g.11113286G>A (hg38)
• PubMed: PMID:15241806 ; PMID:16250003 ; PMID:23375686 ; PMID:25647241

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113286G>A , CM000681.2:g.11113286G>A	GRCh38
NC_000019.9:g.11223962G>A , CM000681.1:g.11223962G>A	GRCh37
NC_000019.8:g.11084962G>A	NCBI36
NG_009060.1:g.28906G>A , LRG_274:g.28906G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1453G>A	ENSP00000252444.6:p.Ala485Thr
ENST00000559340.2:c.1195G>A	ENSP00000453696.2:p.Ala399Thr
ENST00000560467.2:c.1075G>A	ENSP00000453513.2:p.Ala359Thr
ENST00000558518.6:c.1195G>A MANE Select	ENSP00000454071.1:p.Ala399Thr
ENST00000252444.9:c.1449G>A
ENST00000455727.6:c.691G>A	ENSP00000397829.2:p.Ala231Thr
ENST00000535915.5:c.1072G>A	ENSP00000440520.1:p.Ala358Thr
ENST00000545707.5:c.814G>A	ENSP00000437639.1:p.Ala272Thr
ENST00000557933.5:c.1195G>A	ENSP00000453557.1:p.Ala399Thr
ENST00000558013.5:c.1195G>A	ENSP00000453346.1:p.Ala399Thr
ENST00000558518.5:c.1195G>A	ENSP00000454071.1:p.Ala399Thr
ENST00000560173.1:n.194G>A
ENST00000560467.1:c.675G>A
NM_000527.4:c.1195G>A , LRG_274t1:c.1195G>A	NP_000518.1:p.Ala399Thr
NM_001195798.1:c.1195G>A	NP_001182727.1:p.Ala399Thr
NM_001195799.1:c.1072G>A	NP_001182728.1:p.Ala358Thr
NM_001195800.1:c.691G>A	NP_001182729.1:p.Ala231Thr
NM_001195803.1:c.814G>A	NP_001182732.1:p.Ala272Thr
XM_011528010.1:c.1195G>A	XP_011526312.1:p.Ala399Thr
XM_011528011.1:c.814G>A	XP_011526313.1:p.Ala272Thr
XR_244074.2:n.1345G>A
XM_011528010.2:c.1195G>A	XP_011526312.1:p.Ala399Thr
XR_001753685.2:n.1312G>A
XR_001753686.2:n.1312G>A
NM_000527.5:c.1195G>A MANE Select	NP_000518.1:p.Ala399Thr
NM_001195798.2:c.1195G>A	NP_001182727.1:p.Ala399Thr
NM_001195799.2:c.1072G>A	NP_001182728.1:p.Ala358Thr
NM_001195800.2:c.691G>A	NP_001182729.1:p.Ala231Thr
NM_001195803.2:c.814G>A	NP_001182732.1:p.Ala272Thr