Canonical Allele Identifier: CA10585669

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252099
• ClinVar RCV Id: RCV000238461 ; RCV000775079 ; RCV002509336 ; RCV003477857
• dbSNP Id: rs879255064
• MyVariant Identifiers: chr19:g.11230796A>C (hg19) ; chr19:g.11120120A>C (hg38)
• PubMed: PMID:11462246

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120120A>C , CM000681.2:g.11120120A>C	GRCh38
NC_000019.9:g.11230796A>C , CM000681.1:g.11230796A>C	GRCh37
NC_000019.8:g.11091796A>C	NCBI36
NG_009060.1:g.35740A>C , LRG_274:g.35740A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2132A>C	ENSP00000252444.6:p.Asn711Thr
ENST00000559340.2:c.1734A>C	ENSP00000453696.2:p.Gln578His
ENST00000560467.2:c.1754A>C	ENSP00000453513.2:p.Asn585Thr
ENST00000558518.6:c.1874A>C MANE Select	ENSP00000454071.1:p.Asn625Thr
ENST00000252444.9:c.2128A>C
ENST00000455727.6:c.1370A>C	ENSP00000397829.2:p.Asn457Thr
ENST00000535915.5:c.1751A>C	ENSP00000440520.1:p.Asn584Thr
ENST00000545707.5:c.1493A>C	ENSP00000437639.1:p.Asn498Thr
ENST00000557933.5:c.1874A>C	ENSP00000453557.1:p.Asn625Thr
ENST00000558013.5:c.1874A>C	ENSP00000453346.1:p.Asn625Thr
ENST00000558518.5:c.1874A>C	ENSP00000454071.1:p.Asn625Thr
ENST00000559340.1:c.455A>C
NM_000527.4:c.1874A>C , LRG_274t1:c.1874A>C	NP_000518.1:p.Asn625Thr
NM_001195798.1:c.1874A>C	NP_001182727.1:p.Asn625Thr
NM_001195799.1:c.1751A>C	NP_001182728.1:p.Asn584Thr
NM_001195800.1:c.1370A>C	NP_001182729.1:p.Asn457Thr
NM_001195803.1:c.1493A>C	NP_001182732.1:p.Asn498Thr
XM_011528010.1:c.1874A>C	XP_011526312.1:p.Asn625Thr
XM_011528011.1:c.1493A>C	XP_011526313.1:p.Asn498Thr
XR_244074.2:n.1884A>C
XM_011528010.2:c.1874A>C	XP_011526312.1:p.Asn625Thr
XR_001753685.2:n.1991A>C
XR_001753686.2:n.1851A>C
NM_000527.5:c.1874A>C MANE Select	NP_000518.1:p.Asn625Thr
NM_001195798.2:c.1874A>C	NP_001182727.1:p.Asn625Thr
NM_001195799.2:c.1751A>C	NP_001182728.1:p.Asn584Thr
NM_001195800.2:c.1370A>C	NP_001182729.1:p.Asn457Thr
NM_001195803.2:c.1493A>C	NP_001182732.1:p.Asn498Thr