Canonical Allele Identifier: CA505484942

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2188736
• ClinVar RCV Id: RCV002620455
• MyVariant Identifiers: chr19:g.11217305G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106629G>T , CM000681.2:g.11106629G>T	GRCh38
NC_000019.9:g.11217305G>T , CM000681.1:g.11217305G>T	GRCh37
NC_000019.8:g.11078305G>T	NCBI36
NG_009060.1:g.22249G>T , LRG_274:g.22249G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1017G>T	ENSP00000252444.6:p.Arg339=
ENST00000559340.2:c.759G>T	ENSP00000453696.2:p.Arg253=
ENST00000560467.2:c.759G>T	ENSP00000453513.2:p.Arg253=
ENST00000558518.6:c.759G>T MANE Select	ENSP00000454071.1:p.Arg253=
ENST00000252444.9:c.1013G>T
ENST00000455727.6:c.314-763G>T	ENSP00000397829.2:n.314-763G>T
ENST00000535915.5:c.636G>T	ENSP00000440520.1:p.Arg212=
ENST00000545707.5:c.378G>T	ENSP00000437639.1:p.Arg126=
ENST00000557933.5:c.759G>T	ENSP00000453557.1:p.Arg253=
ENST00000558013.5:c.759G>T	ENSP00000453346.1:p.Arg253=
ENST00000558518.5:c.759G>T	ENSP00000454071.1:p.Arg253=
ENST00000558528.1:n.274G>T
ENST00000560467.1:c.359G>T
NM_000527.4:c.759G>T , LRG_274t1:c.759G>T	NP_000518.1:p.Arg253=
NM_001195798.1:c.759G>T	NP_001182727.1:p.Arg253=
NM_001195799.1:c.636G>T	NP_001182728.1:p.Arg212=
NM_001195800.1:c.314-763G>T	NP_001182729.1:n.314-763G>T
NM_001195803.1:c.378G>T	NP_001182732.1:p.Arg126=
XM_011528010.1:c.759G>T	XP_011526312.1:p.Arg253=
XM_011528011.1:c.378G>T	XP_011526313.1:p.Arg126=
XR_244074.2:n.909G>T
XM_011528010.2:c.759G>T	XP_011526312.1:p.Arg253=
XR_001753685.2:n.876G>T
XR_001753686.2:n.876G>T
NM_000527.5:c.759G>T MANE Select	NP_000518.1:p.Arg253=
NM_001195798.2:c.759G>T	NP_001182727.1:p.Arg253=
NM_001195799.2:c.636G>T	NP_001182728.1:p.Arg212=
NM_001195800.2:c.314-763G>T	NP_001182729.1:n.314-763G>T
NM_001195803.2:c.378G>T	NP_001182732.1:p.Arg126=