Canonical Allele Identifier: CA404093337

Gene: LDLR

Linked Data

• ClinVar Variation Id: 633289
• ClinVar RCV Id: RCV000781502 ; RCV001825537 ; RCV002501019
• dbSNP Id: rs1568611349
• gnomAD v4: 19-11120231-G-A
• MyVariant Identifiers: chr19:g.11230907G>A (hg19) ; chr19:g.11120231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120231G>A , CM000681.2:g.11120231G>A	GRCh38
NC_000019.9:g.11230907G>A , CM000681.1:g.11230907G>A	GRCh37
NC_000019.8:g.11091907G>A	NCBI36
NG_009060.1:g.35851G>A , LRG_274:g.35851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2243G>A	ENSP00000252444.6:p.Arg748Lys
ENST00000559340.2:c.*54G>A	ENSP00000453696.2:n.*54G>A
ENST00000560467.2:c.1865G>A	ENSP00000453513.2:p.Arg622Lys
ENST00000558518.6:c.1985G>A MANE Select	ENSP00000454071.1:p.Arg662Lys
ENST00000252444.9:c.2239G>A
ENST00000455727.6:c.1481G>A	ENSP00000397829.2:p.Arg494Lys
ENST00000535915.5:c.1862G>A	ENSP00000440520.1:p.Arg621Lys
ENST00000545707.5:c.1604G>A	ENSP00000437639.1:p.Arg535Lys
ENST00000557933.5:c.1985G>A	ENSP00000453557.1:p.Arg662Lys
ENST00000558013.5:c.1985G>A	ENSP00000453346.1:p.Arg662Lys
ENST00000558518.5:c.1985G>A	ENSP00000454071.1:p.Arg662Lys
ENST00000559340.1:c.566G>A
NM_000527.4:c.1985G>A , LRG_274t1:c.1985G>A	NP_000518.1:p.Arg662Lys
NM_001195798.1:c.1985G>A	NP_001182727.1:p.Arg662Lys
NM_001195799.1:c.1862G>A	NP_001182728.1:p.Arg621Lys
NM_001195800.1:c.1481G>A	NP_001182729.1:p.Arg494Lys
NM_001195803.1:c.1604G>A	NP_001182732.1:p.Arg535Lys
XM_011528010.1:c.1985G>A	XP_011526312.1:p.Arg662Lys
XM_011528011.1:c.1604G>A	XP_011526313.1:p.Arg535Lys
XR_244074.2:n.1995G>A
XM_011528010.2:c.1985G>A	XP_011526312.1:p.Arg662Lys
XR_001753685.2:n.2102G>A
XR_001753686.2:n.1962G>A
NM_000527.5:c.1985G>A MANE Select	NP_000518.1:p.Arg662Lys
NM_001195798.2:c.1985G>A	NP_001182727.1:p.Arg662Lys
NM_001195799.2:c.1862G>A	NP_001182728.1:p.Arg621Lys
NM_001195800.2:c.1481G>A	NP_001182729.1:p.Arg494Lys
NM_001195803.2:c.1604G>A	NP_001182732.1:p.Arg535Lys