Canonical Allele Identifier: CA10585161

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251487
• ClinVar RCV Id: RCV000238097
• dbSNP Id: rs879254695
• gnomAD v4: 19-11107429-C-A
• MyVariant Identifiers: chr19:g.11218105C>A (hg19) ; chr19:g.11107429C>A (hg38)
• PubMed: PMID:11851376

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107429C>A , CM000681.2:g.11107429C>A	GRCh38
NC_000019.9:g.11218105C>A , CM000681.1:g.11218105C>A	GRCh37
NC_000019.8:g.11079105C>A	NCBI36
NG_009060.1:g.23049C>A , LRG_274:g.23049C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1113C>A	ENSP00000252444.6:p.His371Gln
ENST00000559340.2:c.855C>A	ENSP00000453696.2:p.His285Gln
ENST00000560467.2:c.855C>A	ENSP00000453513.2:p.His285Gln
ENST00000558518.6:c.855C>A MANE Select	ENSP00000454071.1:p.His285Gln
ENST00000252444.9:c.1109C>A
ENST00000455727.6:c.351C>A	ENSP00000397829.2:p.His117Gln
ENST00000535915.5:c.732C>A	ENSP00000440520.1:p.His244Gln
ENST00000545707.5:c.474C>A	ENSP00000437639.1:p.His158Gln
ENST00000557933.5:c.855C>A	ENSP00000453557.1:p.His285Gln
ENST00000558013.5:c.855C>A	ENSP00000453346.1:p.His285Gln
ENST00000558518.5:c.855C>A	ENSP00000454071.1:p.His285Gln
ENST00000558528.1:n.370C>A
ENST00000560467.1:c.455C>A
NM_000527.4:c.855C>A , LRG_274t1:c.855C>A	NP_000518.1:p.His285Gln
NM_001195798.1:c.855C>A	NP_001182727.1:p.His285Gln
NM_001195799.1:c.732C>A	NP_001182728.1:p.His244Gln
NM_001195800.1:c.351C>A	NP_001182729.1:p.His117Gln
NM_001195803.1:c.474C>A	NP_001182732.1:p.His158Gln
XM_011528010.1:c.855C>A	XP_011526312.1:p.His285Gln
XM_011528011.1:c.474C>A	XP_011526313.1:p.His158Gln
XR_244074.2:n.1005C>A
XM_011528010.2:c.855C>A	XP_011526312.1:p.His285Gln
XR_001753685.2:n.972C>A
XR_001753686.2:n.972C>A
NM_000527.5:c.855C>A MANE Select	NP_000518.1:p.His285Gln
NM_001195798.2:c.855C>A	NP_001182727.1:p.His285Gln
NM_001195799.2:c.732C>A	NP_001182728.1:p.His244Gln
NM_001195800.2:c.351C>A	NP_001182729.1:p.His117Gln
NM_001195803.2:c.474C>A	NP_001182732.1:p.His158Gln