Canonical Allele Identifier: CA404093324

Gene: LDLR

Linked Data

• ClinVar Variation Id: 441225
• ClinVar RCV Id: RCV000509512 ; RCV001805127 ; RCV002420291
• dbSNP Id: rs1182317785
• gnomAD v3: 19-11120227-C-A
• gnomAD v4: 19-11120227-C-A
• MyVariant Identifiers: chr19:g.11230903C>A (hg19) ; chr19:g.11120227C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120227C>A , CM000681.2:g.11120227C>A	GRCh38
NC_000019.9:g.11230903C>A , CM000681.1:g.11230903C>A	GRCh37
NC_000019.8:g.11091903C>A	NCBI36
NG_009060.1:g.35847C>A , LRG_274:g.35847C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2239C>A	ENSP00000252444.6:p.Pro747Thr
ENST00000559340.2:c.*50C>A	ENSP00000453696.2:n.*50C>A
ENST00000560467.2:c.1861C>A	ENSP00000453513.2:p.Pro621Thr
ENST00000558518.6:c.1981C>A MANE Select	ENSP00000454071.1:p.Pro661Thr
ENST00000252444.9:c.2235C>A
ENST00000455727.6:c.1477C>A	ENSP00000397829.2:p.Pro493Thr
ENST00000535915.5:c.1858C>A	ENSP00000440520.1:p.Pro620Thr
ENST00000545707.5:c.1600C>A	ENSP00000437639.1:p.Pro534Thr
ENST00000557933.5:c.1981C>A	ENSP00000453557.1:p.Pro661Thr
ENST00000558013.5:c.1981C>A	ENSP00000453346.1:p.Pro661Thr
ENST00000558518.5:c.1981C>A	ENSP00000454071.1:p.Pro661Thr
ENST00000559340.1:c.562C>A
NM_000527.4:c.1981C>A , LRG_274t1:c.1981C>A	NP_000518.1:p.Pro661Thr
NM_001195798.1:c.1981C>A	NP_001182727.1:p.Pro661Thr
NM_001195799.1:c.1858C>A	NP_001182728.1:p.Pro620Thr
NM_001195800.1:c.1477C>A	NP_001182729.1:p.Pro493Thr
NM_001195803.1:c.1600C>A	NP_001182732.1:p.Pro534Thr
XM_011528010.1:c.1981C>A	XP_011526312.1:p.Pro661Thr
XM_011528011.1:c.1600C>A	XP_011526313.1:p.Pro534Thr
XR_244074.2:n.1991C>A
XM_011528010.2:c.1981C>A	XP_011526312.1:p.Pro661Thr
XR_001753685.2:n.2098C>A
XR_001753686.2:n.1958C>A
NM_000527.5:c.1981C>A MANE Select	NP_000518.1:p.Pro661Thr
NM_001195798.2:c.1981C>A	NP_001182727.1:p.Pro661Thr
NM_001195799.2:c.1858C>A	NP_001182728.1:p.Pro620Thr
NM_001195800.2:c.1477C>A	NP_001182729.1:p.Pro493Thr
NM_001195803.2:c.1600C>A	NP_001182732.1:p.Pro534Thr