Canonical Allele Identifier: CA10585164

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251492
• ClinVar RCV Id: RCV000237446 ; RCV002446474
• dbSNP Id: rs879254697
• MyVariant Identifiers: chr19:g.11218115T>C (hg19) ; chr19:g.11107439T>C (hg38)
• PubMed: PMID:16314194

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107439T>C , CM000681.2:g.11107439T>C	GRCh38
NC_000019.9:g.11218115T>C , CM000681.1:g.11218115T>C	GRCh37
NC_000019.8:g.11079115T>C	NCBI36
NG_009060.1:g.23059T>C , LRG_274:g.23059T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1123T>C	ENSP00000252444.6:p.Cys375Arg
ENST00000559340.2:c.865T>C	ENSP00000453696.2:p.Cys289Arg
ENST00000560467.2:c.865T>C	ENSP00000453513.2:p.Cys289Arg
ENST00000558518.6:c.865T>C MANE Select	ENSP00000454071.1:p.Cys289Arg
ENST00000252444.9:c.1119T>C
ENST00000455727.6:c.361T>C	ENSP00000397829.2:p.Cys121Arg
ENST00000535915.5:c.742T>C	ENSP00000440520.1:p.Cys248Arg
ENST00000545707.5:c.484T>C	ENSP00000437639.1:p.Cys162Arg
ENST00000557933.5:c.865T>C	ENSP00000453557.1:p.Cys289Arg
ENST00000558013.5:c.865T>C	ENSP00000453346.1:p.Cys289Arg
ENST00000558518.5:c.865T>C	ENSP00000454071.1:p.Cys289Arg
ENST00000558528.1:n.380T>C
ENST00000560467.1:c.465T>C
NM_000527.4:c.865T>C , LRG_274t1:c.865T>C	NP_000518.1:p.Cys289Arg
NM_001195798.1:c.865T>C	NP_001182727.1:p.Cys289Arg
NM_001195799.1:c.742T>C	NP_001182728.1:p.Cys248Arg
NM_001195800.1:c.361T>C	NP_001182729.1:p.Cys121Arg
NM_001195803.1:c.484T>C	NP_001182732.1:p.Cys162Arg
XM_011528010.1:c.865T>C	XP_011526312.1:p.Cys289Arg
XM_011528011.1:c.484T>C	XP_011526313.1:p.Cys162Arg
XR_244074.2:n.1015T>C
XM_011528010.2:c.865T>C	XP_011526312.1:p.Cys289Arg
XR_001753685.2:n.982T>C
XR_001753686.2:n.982T>C
NM_000527.5:c.865T>C MANE Select	NP_000518.1:p.Cys289Arg
NM_001195798.2:c.865T>C	NP_001182727.1:p.Cys289Arg
NM_001195799.2:c.742T>C	NP_001182728.1:p.Cys248Arg
NM_001195800.2:c.361T>C	NP_001182729.1:p.Cys121Arg
NM_001195803.2:c.484T>C	NP_001182732.1:p.Cys162Arg