Canonical Allele Identifier: CA404098866

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1791406
• ClinVar RCV Id: RCV002455408
• MyVariant Identifiers: chr19:g.11240246A>G (hg19) ; chr19:g.11129570A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129570A>G , CM000681.2:g.11129570A>G	GRCh38
NC_000019.9:g.11240246A>G , CM000681.1:g.11240246A>G	GRCh37
NC_000019.8:g.11101246A>G	NCBI36
NG_009060.1:g.45190A>G , LRG_274:g.45190A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2705A>G	ENSP00000252444.6:p.Lys902Arg
ENST00000559340.2:c.*516A>G	ENSP00000453696.2:n.*516A>G
ENST00000560467.2:c.2327A>G	ENSP00000453513.2:p.Lys776Arg
ENST00000558518.6:c.2447A>G MANE Select	ENSP00000454071.1:p.Lys816Arg
ENST00000252444.9:c.2701A>G
ENST00000455727.6:c.1943A>G	ENSP00000397829.2:p.Lys648Arg
ENST00000535915.5:c.2324A>G	ENSP00000440520.1:p.Lys775Arg
ENST00000545707.5:c.1913A>G	ENSP00000437639.1:p.Lys638Arg
ENST00000557933.5:c.2509A>G	ENSP00000453557.1:p.Arg837Gly
ENST00000558013.5:c.2447A>G	ENSP00000453346.1:p.Lys816Arg
ENST00000558518.5:c.2447A>G	ENSP00000454071.1:p.Lys816Arg
ENST00000560628.1:n.108+1916A>G
NM_000527.4:c.2447A>G , LRG_274t1:c.2447A>G	NP_000518.1:p.Lys816Arg
NM_001195798.1:c.2447A>G	NP_001182727.1:p.Lys816Arg
NM_001195799.1:c.2324A>G	NP_001182728.1:p.Lys775Arg
NM_001195800.1:c.1943A>G	NP_001182729.1:p.Lys648Arg
NM_001195803.1:c.1913A>G	NP_001182732.1:p.Lys638Arg
XM_011528010.1:c.2369A>G	XP_011526312.1:p.Lys790Arg
XM_011528011.1:c.2066A>G	XP_011526313.1:p.Lys689Arg
XR_244074.2:n.2457A>G
XM_011528010.2:c.2369A>G	XP_011526312.1:p.Lys790Arg
XR_001753685.2:n.2781A>G
XR_001753686.2:n.2424A>G
NM_000527.5:c.2447A>G MANE Select	NP_000518.1:p.Lys816Arg
NM_001195798.2:c.2447A>G	NP_001182727.1:p.Lys816Arg
NM_001195799.2:c.2324A>G	NP_001182728.1:p.Lys775Arg
NM_001195800.2:c.1943A>G	NP_001182729.1:p.Lys648Arg
NM_001195803.2:c.1913A>G	NP_001182732.1:p.Lys638Arg