Canonical Allele Identifier: CA404080636

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2847441
• ClinVar RCV Id: RCV003742129
• MyVariant Identifiers: chr19:g.11218098A>C (hg19) ; chr19:g.11107422A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107422A>C , CM000681.2:g.11107422A>C	GRCh38
NC_000019.9:g.11218098A>C , CM000681.1:g.11218098A>C	GRCh37
NC_000019.8:g.11079098A>C	NCBI36
NG_009060.1:g.23042A>C , LRG_274:g.23042A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1106A>C	ENSP00000252444.6:p.Lys369Thr
ENST00000559340.2:c.848A>C	ENSP00000453696.2:p.Lys283Thr
ENST00000560467.2:c.848A>C	ENSP00000453513.2:p.Lys283Thr
ENST00000558518.6:c.848A>C MANE Select	ENSP00000454071.1:p.Lys283Thr
ENST00000252444.9:c.1102A>C
ENST00000455727.6:c.344A>C	ENSP00000397829.2:p.Lys115Thr
ENST00000535915.5:c.725A>C	ENSP00000440520.1:p.Lys242Thr
ENST00000545707.5:c.467A>C	ENSP00000437639.1:p.Lys156Thr
ENST00000557933.5:c.848A>C	ENSP00000453557.1:p.Lys283Thr
ENST00000558013.5:c.848A>C	ENSP00000453346.1:p.Lys283Thr
ENST00000558518.5:c.848A>C	ENSP00000454071.1:p.Lys283Thr
ENST00000558528.1:n.363A>C
ENST00000560467.1:c.448A>C
NM_000527.4:c.848A>C , LRG_274t1:c.848A>C	NP_000518.1:p.Lys283Thr
NM_001195798.1:c.848A>C	NP_001182727.1:p.Lys283Thr
NM_001195799.1:c.725A>C	NP_001182728.1:p.Lys242Thr
NM_001195800.1:c.344A>C	NP_001182729.1:p.Lys115Thr
NM_001195803.1:c.467A>C	NP_001182732.1:p.Lys156Thr
XM_011528010.1:c.848A>C	XP_011526312.1:p.Lys283Thr
XM_011528011.1:c.467A>C	XP_011526313.1:p.Lys156Thr
XR_244074.2:n.998A>C
XM_011528010.2:c.848A>C	XP_011526312.1:p.Lys283Thr
XR_001753685.2:n.965A>C
XR_001753686.2:n.965A>C
NM_000527.5:c.848A>C MANE Select	NP_000518.1:p.Lys283Thr
NM_001195798.2:c.848A>C	NP_001182727.1:p.Lys283Thr
NM_001195799.2:c.725A>C	NP_001182728.1:p.Lys242Thr
NM_001195800.2:c.344A>C	NP_001182729.1:p.Lys115Thr
NM_001195803.2:c.467A>C	NP_001182732.1:p.Lys156Thr