Canonical Allele Identifier: CA10585370

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251746
• ClinVar RCV Id: RCV000237586
• dbSNP Id: rs879254843
• gnomAD v4: 19-11113327-G-A
• MyVariant Identifiers: chr19:g.11224003G>A (hg19) ; chr19:g.11113327G>A (hg38)
• PubMed: PMID:22881376

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113327G>A , CM000681.2:g.11113327G>A	GRCh38
NC_000019.9:g.11224003G>A , CM000681.1:g.11224003G>A	GRCh37
NC_000019.8:g.11085003G>A	NCBI36
NG_009060.1:g.28947G>A , LRG_274:g.28947G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1494G>A	ENSP00000252444.6:p.Met498Ile
ENST00000559340.2:c.1236G>A	ENSP00000453696.2:p.Met412Ile
ENST00000560467.2:c.1116G>A	ENSP00000453513.2:p.Met372Ile
ENST00000558518.6:c.1236G>A MANE Select	ENSP00000454071.1:p.Met412Ile
ENST00000252444.9:c.1490G>A
ENST00000455727.6:c.732G>A	ENSP00000397829.2:p.Met244Ile
ENST00000535915.5:c.1113G>A	ENSP00000440520.1:p.Met371Ile
ENST00000545707.5:c.855G>A	ENSP00000437639.1:p.Met285Ile
ENST00000557933.5:c.1236G>A	ENSP00000453557.1:p.Met412Ile
ENST00000558013.5:c.1236G>A	ENSP00000453346.1:p.Met412Ile
ENST00000558518.5:c.1236G>A	ENSP00000454071.1:p.Met412Ile
ENST00000560173.1:n.235G>A
ENST00000560467.1:c.716G>A
NM_000527.4:c.1236G>A , LRG_274t1:c.1236G>A	NP_000518.1:p.Met412Ile
NM_001195798.1:c.1236G>A	NP_001182727.1:p.Met412Ile
NM_001195799.1:c.1113G>A	NP_001182728.1:p.Met371Ile
NM_001195800.1:c.732G>A	NP_001182729.1:p.Met244Ile
NM_001195803.1:c.855G>A	NP_001182732.1:p.Met285Ile
XM_011528010.1:c.1236G>A	XP_011526312.1:p.Met412Ile
XM_011528011.1:c.855G>A	XP_011526313.1:p.Met285Ile
XR_244074.2:n.1386G>A
XM_011528010.2:c.1236G>A	XP_011526312.1:p.Met412Ile
XR_001753685.2:n.1353G>A
XR_001753686.2:n.1353G>A
NM_000527.5:c.1236G>A MANE Select	NP_000518.1:p.Met412Ile
NM_001195798.2:c.1236G>A	NP_001182727.1:p.Met412Ile
NM_001195799.2:c.1113G>A	NP_001182728.1:p.Met371Ile
NM_001195800.2:c.732G>A	NP_001182729.1:p.Met244Ile
NM_001195803.2:c.855G>A	NP_001182732.1:p.Met285Ile