Canonical Allele Identifier: CA305300064

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1753900
• ClinVar RCV Id: RCV002356275 ; RCV003098271
• dbSNP Id: rs142319510
• gnomAD v3: 19-11113315-G-A
• gnomAD v4: 19-11113315-G-A
• MyVariant Identifiers: chr19:g.11223991G>A (hg19) ; chr19:g.11113315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113315G>A , CM000681.2:g.11113315G>A	GRCh38
NC_000019.9:g.11223991G>A , CM000681.1:g.11223991G>A	GRCh37
NC_000019.8:g.11084991G>A	NCBI36
NG_009060.1:g.28935G>A , LRG_274:g.28935G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1482G>A	ENSP00000252444.6:p.Glu494=
ENST00000559340.2:c.1224G>A	ENSP00000453696.2:p.Glu408=
ENST00000560467.2:c.1104G>A	ENSP00000453513.2:p.Glu368=
ENST00000558518.6:c.1224G>A MANE Select	ENSP00000454071.1:p.Glu408=
ENST00000252444.9:c.1478G>A
ENST00000455727.6:c.720G>A	ENSP00000397829.2:p.Glu240=
ENST00000535915.5:c.1101G>A	ENSP00000440520.1:p.Glu367=
ENST00000545707.5:c.843G>A	ENSP00000437639.1:p.Glu281=
ENST00000557933.5:c.1224G>A	ENSP00000453557.1:p.Glu408=
ENST00000558013.5:c.1224G>A	ENSP00000453346.1:p.Glu408=
ENST00000558518.5:c.1224G>A	ENSP00000454071.1:p.Glu408=
ENST00000560173.1:n.223G>A
ENST00000560467.1:c.704G>A
NM_000527.4:c.1224G>A , LRG_274t1:c.1224G>A	NP_000518.1:p.Glu408=
NM_001195798.1:c.1224G>A	NP_001182727.1:p.Glu408=
NM_001195799.1:c.1101G>A	NP_001182728.1:p.Glu367=
NM_001195800.1:c.720G>A	NP_001182729.1:p.Glu240=
NM_001195803.1:c.843G>A	NP_001182732.1:p.Glu281=
XM_011528010.1:c.1224G>A	XP_011526312.1:p.Glu408=
XM_011528011.1:c.843G>A	XP_011526313.1:p.Glu281=
XR_244074.2:n.1374G>A
XM_011528010.2:c.1224G>A	XP_011526312.1:p.Glu408=
XR_001753685.2:n.1341G>A
XR_001753686.2:n.1341G>A
NM_000527.5:c.1224G>A MANE Select	NP_000518.1:p.Glu408=
NM_001195798.2:c.1224G>A	NP_001182727.1:p.Glu408=
NM_001195799.2:c.1101G>A	NP_001182728.1:p.Glu367=
NM_001195800.2:c.720G>A	NP_001182729.1:p.Glu240=
NM_001195803.2:c.843G>A	NP_001182732.1:p.Glu281=