Canonical Allele Identifier: CA10585382

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251762
• ClinVar RCV Id: RCV000237639 ; RCV001068739
• dbSNP Id: rs879254850
• MyVariant Identifiers: chr19:g.11224041A>T (hg19) ; chr19:g.11113365A>T (hg38)
• PubMed: PMID:11810272

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113365A>T , CM000681.2:g.11113365A>T	GRCh38
NC_000019.9:g.11224041A>T , CM000681.1:g.11224041A>T	GRCh37
NC_000019.8:g.11085041A>T	NCBI36
NG_009060.1:g.28985A>T , LRG_274:g.28985A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1532A>T	ENSP00000252444.6:p.Asn511Ile
ENST00000559340.2:c.1274A>T	ENSP00000453696.2:p.Asn425Ile
ENST00000560467.2:c.1154A>T	ENSP00000453513.2:p.Asn385Ile
ENST00000558518.6:c.1274A>T MANE Select	ENSP00000454071.1:p.Asn425Ile
ENST00000252444.9:c.1528A>T
ENST00000455727.6:c.770A>T	ENSP00000397829.2:p.Asn257Ile
ENST00000535915.5:c.1151A>T	ENSP00000440520.1:p.Asn384Ile
ENST00000545707.5:c.893A>T	ENSP00000437639.1:p.Asn298Ile
ENST00000557933.5:c.1274A>T	ENSP00000453557.1:p.Asn425Ile
ENST00000558013.5:c.1274A>T	ENSP00000453346.1:p.Asn425Ile
ENST00000558518.5:c.1274A>T	ENSP00000454071.1:p.Asn425Ile
ENST00000560173.1:n.273A>T
ENST00000560467.1:c.754A>T
NM_000527.4:c.1274A>T , LRG_274t1:c.1274A>T	NP_000518.1:p.Asn425Ile
NM_001195798.1:c.1274A>T	NP_001182727.1:p.Asn425Ile
NM_001195799.1:c.1151A>T	NP_001182728.1:p.Asn384Ile
NM_001195800.1:c.770A>T	NP_001182729.1:p.Asn257Ile
NM_001195803.1:c.893A>T	NP_001182732.1:p.Asn298Ile
XM_011528010.1:c.1274A>T	XP_011526312.1:p.Asn425Ile
XM_011528011.1:c.893A>T	XP_011526313.1:p.Asn298Ile
XR_244074.2:n.1424A>T
XM_011528010.2:c.1274A>T	XP_011526312.1:p.Asn425Ile
XR_001753685.2:n.1391A>T
XR_001753686.2:n.1391A>T
NM_000527.5:c.1274A>T MANE Select	NP_000518.1:p.Asn425Ile
NM_001195798.2:c.1274A>T	NP_001182727.1:p.Asn425Ile
NM_001195799.2:c.1151A>T	NP_001182728.1:p.Asn384Ile
NM_001195800.2:c.770A>T	NP_001182729.1:p.Asn257Ile
NM_001195803.2:c.893A>T	NP_001182732.1:p.Asn298Ile