Canonical Allele Identifier: CA404092463

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2907538
• ClinVar RCV Id: RCV003740886
• MyVariant Identifiers: chr19:g.11230789A>T (hg19) ; chr19:g.11120113A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120113A>T , CM000681.2:g.11120113A>T	GRCh38
NC_000019.9:g.11230789A>T , CM000681.1:g.11230789A>T	GRCh37
NC_000019.8:g.11091789A>T	NCBI36
NG_009060.1:g.35733A>T , LRG_274:g.35733A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2125A>T	ENSP00000252444.6:p.Ile709Phe
ENST00000559340.2:c.1727A>T	ENSP00000453696.2:p.Tyr576Phe
ENST00000560467.2:c.1747A>T	ENSP00000453513.2:p.Ile583Phe
ENST00000558518.6:c.1867A>T MANE Select	ENSP00000454071.1:p.Ile623Phe
ENST00000252444.9:c.2121A>T
ENST00000455727.6:c.1363A>T	ENSP00000397829.2:p.Ile455Phe
ENST00000535915.5:c.1744A>T	ENSP00000440520.1:p.Ile582Phe
ENST00000545707.5:c.1486A>T	ENSP00000437639.1:p.Ile496Phe
ENST00000557933.5:c.1867A>T	ENSP00000453557.1:p.Ile623Phe
ENST00000558013.5:c.1867A>T	ENSP00000453346.1:p.Ile623Phe
ENST00000558518.5:c.1867A>T	ENSP00000454071.1:p.Ile623Phe
ENST00000559340.1:c.448A>T
NM_000527.4:c.1867A>T , LRG_274t1:c.1867A>T	NP_000518.1:p.Ile623Phe
NM_001195798.1:c.1867A>T	NP_001182727.1:p.Ile623Phe
NM_001195799.1:c.1744A>T	NP_001182728.1:p.Ile582Phe
NM_001195800.1:c.1363A>T	NP_001182729.1:p.Ile455Phe
NM_001195803.1:c.1486A>T	NP_001182732.1:p.Ile496Phe
XM_011528010.1:c.1867A>T	XP_011526312.1:p.Ile623Phe
XM_011528011.1:c.1486A>T	XP_011526313.1:p.Ile496Phe
XR_244074.2:n.1877A>T
XM_011528010.2:c.1867A>T	XP_011526312.1:p.Ile623Phe
XR_001753685.2:n.1984A>T
XR_001753686.2:n.1844A>T
NM_000527.5:c.1867A>T MANE Select	NP_000518.1:p.Ile623Phe
NM_001195798.2:c.1867A>T	NP_001182727.1:p.Ile623Phe
NM_001195799.2:c.1744A>T	NP_001182728.1:p.Ile582Phe
NM_001195800.2:c.1363A>T	NP_001182729.1:p.Ile455Phe
NM_001195803.2:c.1486A>T	NP_001182732.1:p.Ile496Phe