Canonical Allele Identifier: CA404099832

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440701
• ClinVar RCV Id: RCV000508796 ; RCV002527377
• dbSNP Id: rs1555809614
• gnomAD v3: 19-11129653-G-A
• gnomAD v4: 19-11129653-G-A
• MyVariant Identifiers: chr19:g.11240329G>A (hg19) ; chr19:g.11129653G>A (hg38)
• ERepo: CA404099832/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129653G>A , CM000681.2:g.11129653G>A	GRCh38
NC_000019.9:g.11240329G>A , CM000681.1:g.11240329G>A	GRCh37
NC_000019.8:g.11101329G>A	NCBI36
NG_009060.1:g.45273G>A , LRG_274:g.45273G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2788G>A	ENSP00000252444.6:p.Gly930Ser
ENST00000559340.2:c.*599G>A	ENSP00000453696.2:n.*599G>A
ENST00000560467.2:c.2410G>A	ENSP00000453513.2:p.Gly804Ser
ENST00000558518.6:c.2530G>A MANE Select	ENSP00000454071.1:p.Gly844Ser
ENST00000252444.9:c.2784G>A
ENST00000455727.6:c.2026G>A	ENSP00000397829.2:p.Gly676Ser
ENST00000535915.5:c.2407G>A	ENSP00000440520.1:p.Gly803Ser
ENST00000545707.5:c.1996G>A	ENSP00000437639.1:p.Gly666Ser
ENST00000557933.5:c.2592G>A	ENSP00000453557.1:p.Thr864=
ENST00000558013.5:c.2530G>A	ENSP00000453346.1:p.Gly844Ser
ENST00000558518.5:c.2530G>A	ENSP00000454071.1:p.Gly844Ser
ENST00000560628.1:n.108+1999G>A
NM_000527.4:c.2530G>A , LRG_274t1:c.2530G>A	NP_000518.1:p.Gly844Ser
NM_001195798.1:c.2530G>A	NP_001182727.1:p.Gly844Ser
NM_001195799.1:c.2407G>A	NP_001182728.1:p.Gly803Ser
NM_001195800.1:c.2026G>A	NP_001182729.1:p.Gly676Ser
NM_001195803.1:c.1996G>A	NP_001182732.1:p.Gly666Ser
XM_011528010.1:c.2452G>A	XP_011526312.1:p.Gly818Ser
XM_011528011.1:c.2149G>A	XP_011526313.1:p.Gly717Ser
XM_011528010.2:c.2452G>A	XP_011526312.1:p.Gly818Ser
XR_001753685.2:n.2864G>A
XR_001753686.2:n.2507G>A
NM_000527.5:c.2530G>A MANE Select	NP_000518.1:p.Gly844Ser
NM_001195798.2:c.2530G>A	NP_001182727.1:p.Gly844Ser
NM_001195799.2:c.2407G>A	NP_001182728.1:p.Gly803Ser
NM_001195800.2:c.2026G>A	NP_001182729.1:p.Gly676Ser
NM_001195803.2:c.1996G>A	NP_001182732.1:p.Gly666Ser