Canonical Allele Identifier: CA404095231

Gene: LDLR

Linked Data

• ClinVar Variation Id: 918460
• ClinVar RCV Id: RCV001176057
• dbSNP Id: rs1484331319
• gnomAD v3: 19-11123272-C-A
• gnomAD v4: 19-11123272-C-A
• MyVariant Identifiers: chr19:g.11233948C>A (hg19) ; chr19:g.11123272C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123272C>A , CM000681.2:g.11123272C>A	GRCh38
NC_000019.9:g.11233948C>A , CM000681.1:g.11233948C>A	GRCh37
NC_000019.8:g.11094948C>A	NCBI36
NG_009060.1:g.38892C>A , LRG_274:g.38892C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2497C>A	ENSP00000252444.6:p.Pro833Thr
ENST00000559340.2:c.*308C>A	ENSP00000453696.2:n.*308C>A
ENST00000560467.2:c.2119C>A	ENSP00000453513.2:p.Pro707Thr
ENST00000558518.6:c.2239C>A MANE Select	ENSP00000454071.1:p.Pro747Thr
ENST00000252444.9:c.2493C>A
ENST00000455727.6:c.1735C>A	ENSP00000397829.2:p.Pro579Thr
ENST00000535915.5:c.2116C>A	ENSP00000440520.1:p.Pro706Thr
ENST00000545707.5:c.1705C>A	ENSP00000437639.1:p.Pro569Thr
ENST00000557933.5:c.2239C>A	ENSP00000453557.1:p.Pro747Thr
ENST00000558013.5:c.2239C>A	ENSP00000453346.1:p.Pro747Thr
ENST00000558518.5:c.2239C>A	ENSP00000454071.1:p.Pro747Thr
NM_000527.4:c.2239C>A , LRG_274t1:c.2239C>A	NP_000518.1:p.Pro747Thr
NM_001195798.1:c.2239C>A	NP_001182727.1:p.Pro747Thr
NM_001195799.1:c.2116C>A	NP_001182728.1:p.Pro706Thr
NM_001195800.1:c.1735C>A	NP_001182729.1:p.Pro579Thr
NM_001195803.1:c.1705C>A	NP_001182732.1:p.Pro569Thr
XM_011528010.1:c.2239C>A	XP_011526312.1:p.Pro747Thr
XM_011528011.1:c.1858C>A	XP_011526313.1:p.Pro620Thr
XR_244074.2:n.2249C>A
XM_011528010.2:c.2239C>A	XP_011526312.1:p.Pro747Thr
XR_001753685.2:n.2573C>A
XR_001753686.2:n.2216C>A
NM_000527.5:c.2239C>A MANE Select	NP_000518.1:p.Pro747Thr
NM_001195798.2:c.2239C>A	NP_001182727.1:p.Pro747Thr
NM_001195799.2:c.2116C>A	NP_001182728.1:p.Pro706Thr
NM_001195800.2:c.1735C>A	NP_001182729.1:p.Pro579Thr
NM_001195803.2:c.1705C>A	NP_001182732.1:p.Pro569Thr