Canonical Allele Identifier: CA10585267

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251617
• ClinVar RCV Id: RCV000237443 ; RCV002411081
• dbSNP Id: rs879254769
• MyVariant Identifiers: chr19:g.11221441T>A (hg19) ; chr19:g.11110765T>A (hg38)
• PubMed: PMID:21376320

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11110765T>A , CM000681.2:g.11110765T>A	GRCh38
NC_000019.9:g.11221441T>A , CM000681.1:g.11221441T>A	GRCh37
NC_000019.8:g.11082441T>A	NCBI36
NG_009060.1:g.26385T>A , LRG_274:g.26385T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1312T>A	ENSP00000252444.6:p.Cys438Ser
ENST00000559340.2:c.1054T>A	ENSP00000453696.2:p.Cys352Ser
ENST00000560467.2:c.941-749T>A	ENSP00000453513.2:n.941-749T>A
ENST00000558518.6:c.1054T>A MANE Select	ENSP00000454071.1:p.Cys352Ser
ENST00000252444.9:c.1308T>A
ENST00000455727.6:c.550T>A	ENSP00000397829.2:p.Cys184Ser
ENST00000535915.5:c.931T>A	ENSP00000440520.1:p.Cys311Ser
ENST00000545707.5:c.673T>A	ENSP00000437639.1:p.Cys225Ser
ENST00000557933.5:c.1054T>A	ENSP00000453557.1:p.Cys352Ser
ENST00000558013.5:c.1054T>A	ENSP00000453346.1:p.Cys352Ser
ENST00000558518.5:c.1054T>A	ENSP00000454071.1:p.Cys352Ser
ENST00000560173.1:n.53T>A
ENST00000560467.1:c.541-749T>A
NM_000527.4:c.1054T>A , LRG_274t1:c.1054T>A	NP_000518.1:p.Cys352Ser
NM_001195798.1:c.1054T>A	NP_001182727.1:p.Cys352Ser
NM_001195799.1:c.931T>A	NP_001182728.1:p.Cys311Ser
NM_001195800.1:c.550T>A	NP_001182729.1:p.Cys184Ser
NM_001195803.1:c.673T>A	NP_001182732.1:p.Cys225Ser
XM_011528010.1:c.1054T>A	XP_011526312.1:p.Cys352Ser
XM_011528011.1:c.673T>A	XP_011526313.1:p.Cys225Ser
XR_244074.2:n.1204T>A
XM_011528010.2:c.1054T>A	XP_011526312.1:p.Cys352Ser
XR_001753685.2:n.1171T>A
XR_001753686.2:n.1171T>A
NM_000527.5:c.1054T>A MANE Select	NP_000518.1:p.Cys352Ser
NM_001195798.2:c.1054T>A	NP_001182727.1:p.Cys352Ser
NM_001195799.2:c.931T>A	NP_001182728.1:p.Cys311Ser
NM_001195800.2:c.550T>A	NP_001182729.1:p.Cys184Ser
NM_001195803.2:c.673T>A	NP_001182732.1:p.Cys225Ser