Canonical Allele Identifier: CA10585081

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251394
• ClinVar RCV Id: RCV000237123 ; RCV000421699
• dbSNP Id: rs879254642
• gnomAD v4: 19-11105589-A-C
• MyVariant Identifiers: chr19:g.11216265A>C (hg19) ; chr19:g.11105589A>C (hg38)
• PubMed: PMID:15497035

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105589A>C , CM000681.2:g.11105589A>C	GRCh38
NC_000019.9:g.11216265A>C , CM000681.1:g.11216265A>C	GRCh37
NC_000019.8:g.11077265A>C	NCBI36
NG_009060.1:g.21209A>C , LRG_274:g.21209A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.941A>C	ENSP00000252444.6:p.Glu314Ala
ENST00000559340.2:c.683A>C	ENSP00000453696.2:p.Glu228Ala
ENST00000560467.2:c.683A>C	ENSP00000453513.2:p.Glu228Ala
ENST00000558518.6:c.683A>C MANE Select	ENSP00000454071.1:p.Glu228Ala
ENST00000252444.9:c.937A>C
ENST00000455727.6:c.314-1803A>C	ENSP00000397829.2:n.314-1803A>C
ENST00000535915.5:c.560A>C	ENSP00000440520.1:p.Glu187Ala
ENST00000545707.5:c.314-976A>C	ENSP00000437639.1:n.314-976A>C
ENST00000557933.5:c.683A>C	ENSP00000453557.1:p.Glu228Ala
ENST00000558013.5:c.683A>C	ENSP00000453346.1:p.Glu228Ala
ENST00000558518.5:c.683A>C	ENSP00000454071.1:p.Glu228Ala
ENST00000560467.1:c.283A>C
NM_000527.4:c.683A>C , LRG_274t1:c.683A>C	NP_000518.1:p.Glu228Ala
NM_001195798.1:c.683A>C	NP_001182727.1:p.Glu228Ala
NM_001195799.1:c.560A>C	NP_001182728.1:p.Glu187Ala
NM_001195800.1:c.314-1803A>C	NP_001182729.1:n.314-1803A>C
NM_001195803.1:c.314-976A>C	NP_001182732.1:n.314-976A>C
XM_011528010.1:c.683A>C	XP_011526312.1:p.Glu228Ala
XM_011528011.1:c.314-976A>C	XP_011526313.1:n.314-976A>C
XR_244074.2:n.833A>C
XM_011528010.2:c.683A>C	XP_011526312.1:p.Glu228Ala
XR_001753685.2:n.800A>C
XR_001753686.2:n.800A>C
NM_000527.5:c.683A>C MANE Select	NP_000518.1:p.Glu228Ala
NM_001195798.2:c.683A>C	NP_001182727.1:p.Glu228Ala
NM_001195799.2:c.560A>C	NP_001182728.1:p.Glu187Ala
NM_001195800.2:c.314-1803A>C	NP_001182729.1:n.314-1803A>C
NM_001195803.2:c.314-976A>C	NP_001182732.1:n.314-976A>C