Canonical Allele Identifier: CA10585335

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251697
• ClinVar RCV Id: RCV000237662 ; RCV001067561
• dbSNP Id: rs879254814
• gnomAD v4: 19-11111627-T-C
• MyVariant Identifiers: chr19:g.11222303T>C (hg19) ; chr19:g.11111627T>C (hg38)
• PubMed: PMID:12052488

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111627T>C , CM000681.2:g.11111627T>C	GRCh38
NC_000019.9:g.11222303T>C , CM000681.1:g.11222303T>C	GRCh37
NC_000019.8:g.11083303T>C	NCBI36
NG_009060.1:g.27247T>C , LRG_274:g.27247T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1432T>C	ENSP00000252444.6:p.Cys478Arg
ENST00000559340.2:c.1174T>C	ENSP00000453696.2:p.Cys392Arg
ENST00000560467.2:c.1054T>C	ENSP00000453513.2:p.Cys352Arg
ENST00000558518.6:c.1174T>C MANE Select	ENSP00000454071.1:p.Cys392Arg
ENST00000252444.9:c.1428T>C
ENST00000455727.6:c.670T>C	ENSP00000397829.2:p.Cys224Arg
ENST00000535915.5:c.1051T>C	ENSP00000440520.1:p.Cys351Arg
ENST00000545707.5:c.793T>C	ENSP00000437639.1:p.Cys265Arg
ENST00000557933.5:c.1174T>C	ENSP00000453557.1:p.Cys392Arg
ENST00000558013.5:c.1174T>C	ENSP00000453346.1:p.Cys392Arg
ENST00000558518.5:c.1174T>C	ENSP00000454071.1:p.Cys392Arg
ENST00000560173.1:n.173T>C
ENST00000560467.1:c.654T>C
NM_000527.4:c.1174T>C , LRG_274t1:c.1174T>C	NP_000518.1:p.Cys392Arg
NM_001195798.1:c.1174T>C	NP_001182727.1:p.Cys392Arg
NM_001195799.1:c.1051T>C	NP_001182728.1:p.Cys351Arg
NM_001195800.1:c.670T>C	NP_001182729.1:p.Cys224Arg
NM_001195803.1:c.793T>C	NP_001182732.1:p.Cys265Arg
XM_011528010.1:c.1174T>C	XP_011526312.1:p.Cys392Arg
XM_011528011.1:c.793T>C	XP_011526313.1:p.Cys265Arg
XR_244074.2:n.1324T>C
XM_011528010.2:c.1174T>C	XP_011526312.1:p.Cys392Arg
XR_001753685.2:n.1291T>C
XR_001753686.2:n.1291T>C
NM_000527.5:c.1174T>C MANE Select	NP_000518.1:p.Cys392Arg
NM_001195798.2:c.1174T>C	NP_001182727.1:p.Cys392Arg
NM_001195799.2:c.1051T>C	NP_001182728.1:p.Cys351Arg
NM_001195800.2:c.670T>C	NP_001182729.1:p.Cys224Arg
NM_001195803.2:c.793T>C	NP_001182732.1:p.Cys265Arg