Canonical Allele Identifier: CA404089288

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2199252
• ClinVar RCV Id: RCV002634239
• dbSNP Id: rs1344650672
• MyVariant Identifiers: chr19:g.11226853C>T (hg19) ; chr19:g.11116177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116177C>T , CM000681.2:g.11116177C>T	GRCh38
NC_000019.9:g.11226853C>T , CM000681.1:g.11226853C>T	GRCh37
NC_000019.8:g.11087853C>T	NCBI36
NG_009060.1:g.31797C>T , LRG_274:g.31797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1928C>T	ENSP00000252444.6:p.Thr643Ile
ENST00000559340.2:c.1670C>T	ENSP00000453696.2:p.Thr557Ile
ENST00000560467.2:c.1550C>T	ENSP00000453513.2:p.Thr517Ile
ENST00000558518.6:c.1670C>T MANE Select	ENSP00000454071.1:p.Thr557Ile
ENST00000252444.9:c.1924C>T
ENST00000455727.6:c.1166C>T	ENSP00000397829.2:p.Thr389Ile
ENST00000535915.5:c.1547C>T	ENSP00000440520.1:p.Thr516Ile
ENST00000545707.5:c.1289C>T	ENSP00000437639.1:p.Thr430Ile
ENST00000557933.5:c.1670C>T	ENSP00000453557.1:p.Thr557Ile
ENST00000558013.5:c.1670C>T	ENSP00000453346.1:p.Thr557Ile
ENST00000558518.5:c.1670C>T	ENSP00000454071.1:p.Thr557Ile
ENST00000559340.1:c.391C>T
NM_000527.4:c.1670C>T , LRG_274t1:c.1670C>T	NP_000518.1:p.Thr557Ile
NM_001195798.1:c.1670C>T	NP_001182727.1:p.Thr557Ile
NM_001195799.1:c.1547C>T	NP_001182728.1:p.Thr516Ile
NM_001195800.1:c.1166C>T	NP_001182729.1:p.Thr389Ile
NM_001195803.1:c.1289C>T	NP_001182732.1:p.Thr430Ile
XM_011528010.1:c.1670C>T	XP_011526312.1:p.Thr557Ile
XM_011528011.1:c.1289C>T	XP_011526313.1:p.Thr430Ile
XR_244074.2:n.1820C>T
XM_011528010.2:c.1670C>T	XP_011526312.1:p.Thr557Ile
XR_001753685.2:n.1787C>T
XR_001753686.2:n.1787C>T
NM_000527.5:c.1670C>T MANE Select	NP_000518.1:p.Thr557Ile
NM_001195798.2:c.1670C>T	NP_001182727.1:p.Thr557Ile
NM_001195799.2:c.1547C>T	NP_001182728.1:p.Thr516Ile
NM_001195800.2:c.1166C>T	NP_001182729.1:p.Thr389Ile
NM_001195803.2:c.1289C>T	NP_001182732.1:p.Thr430Ile