Canonical Allele Identifier: CA10585083

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251396
• ClinVar RCV Id: RCV000238043 ; RCV001246502 ; RCV002365243
• dbSNP Id: rs746091400
• MyVariant Identifiers: chr19:g.11216273T>C (hg19) ; chr19:g.11105597T>C (hg38)
• PubMed: PMID:19073363

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105597T>C , CM000681.2:g.11105597T>C	GRCh38
NC_000019.9:g.11216273T>C , CM000681.1:g.11216273T>C	GRCh37
NC_000019.8:g.11077273T>C	NCBI36
NG_009060.1:g.21217T>C , LRG_274:g.21217T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.949T>C	ENSP00000252444.6:p.Cys317Arg
ENST00000559340.2:c.691T>C	ENSP00000453696.2:p.Cys231Arg
ENST00000560467.2:c.691T>C	ENSP00000453513.2:p.Cys231Arg
ENST00000558518.6:c.691T>C MANE Select	ENSP00000454071.1:p.Cys231Arg
ENST00000252444.9:c.945T>C
ENST00000455727.6:c.314-1795T>C	ENSP00000397829.2:n.314-1795T>C
ENST00000535915.5:c.568T>C	ENSP00000440520.1:p.Cys190Arg
ENST00000545707.5:c.314-968T>C	ENSP00000437639.1:n.314-968T>C
ENST00000557933.5:c.691T>C	ENSP00000453557.1:p.Cys231Arg
ENST00000558013.5:c.691T>C	ENSP00000453346.1:p.Cys231Arg
ENST00000558518.5:c.691T>C	ENSP00000454071.1:p.Cys231Arg
ENST00000560467.1:c.291T>C
NM_000527.4:c.691T>C , LRG_274t1:c.691T>C	NP_000518.1:p.Cys231Arg
NM_001195798.1:c.691T>C	NP_001182727.1:p.Cys231Arg
NM_001195799.1:c.568T>C	NP_001182728.1:p.Cys190Arg
NM_001195800.1:c.314-1795T>C	NP_001182729.1:n.314-1795T>C
NM_001195803.1:c.314-968T>C	NP_001182732.1:n.314-968T>C
XM_011528010.1:c.691T>C	XP_011526312.1:p.Cys231Arg
XM_011528011.1:c.314-968T>C	XP_011526313.1:n.314-968T>C
XR_244074.2:n.841T>C
XM_011528010.2:c.691T>C	XP_011526312.1:p.Cys231Arg
XR_001753685.2:n.808T>C
XR_001753686.2:n.808T>C
NM_000527.5:c.691T>C MANE Select	NP_000518.1:p.Cys231Arg
NM_001195798.2:c.691T>C	NP_001182727.1:p.Cys231Arg
NM_001195799.2:c.568T>C	NP_001182728.1:p.Cys190Arg
NM_001195800.2:c.314-1795T>C	NP_001182729.1:n.314-1795T>C
NM_001195803.2:c.314-968T>C	NP_001182732.1:n.314-968T>C