Canonical Allele Identifier: CA404086607

Gene: LDLR

Linked Data

• ClinVar Variation Id: 920704
• ClinVar RCV Id: RCV002223995 ; RCV002402537
• dbSNP Id: rs763884010
• gnomAD v2: 19-11224427-T-G
• gnomAD v3: 19-11113751-T-G
• gnomAD v4: 19-11113751-T-G
• MyVariant Identifiers: chr19:g.11224427T>G (hg19) ; chr19:g.11113751T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113751T>G , CM000681.2:g.11113751T>G	GRCh38
NC_000019.9:g.11224427T>G , CM000681.1:g.11224427T>G	GRCh37
NC_000019.8:g.11085427T>G	NCBI36
NG_009060.1:g.29371T>G , LRG_274:g.29371T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1833T>G	ENSP00000252444.6:p.Asp611Glu
ENST00000559340.2:c.1575T>G	ENSP00000453696.2:p.Asp525Glu
ENST00000560467.2:c.1455T>G	ENSP00000453513.2:p.Asp485Glu
ENST00000558518.6:c.1575T>G MANE Select	ENSP00000454071.1:p.Asp525Glu
ENST00000252444.9:c.1829T>G
ENST00000455727.6:c.1071T>G	ENSP00000397829.2:p.Asp357Glu
ENST00000535915.5:c.1452T>G	ENSP00000440520.1:p.Asp484Glu
ENST00000545707.5:c.1194T>G	ENSP00000437639.1:p.Asp398Glu
ENST00000557933.5:c.1575T>G	ENSP00000453557.1:p.Asp525Glu
ENST00000558013.5:c.1575T>G	ENSP00000453346.1:p.Asp525Glu
ENST00000558518.5:c.1575T>G	ENSP00000454071.1:p.Asp525Glu
ENST00000559340.1:c.296T>G
NM_000527.4:c.1575T>G , LRG_274t1:c.1575T>G	NP_000518.1:p.Asp525Glu
NM_001195798.1:c.1575T>G	NP_001182727.1:p.Asp525Glu
NM_001195799.1:c.1452T>G	NP_001182728.1:p.Asp484Glu
NM_001195800.1:c.1071T>G	NP_001182729.1:p.Asp357Glu
NM_001195803.1:c.1194T>G	NP_001182732.1:p.Asp398Glu
XM_011528010.1:c.1575T>G	XP_011526312.1:p.Asp525Glu
XM_011528011.1:c.1194T>G	XP_011526313.1:p.Asp398Glu
XR_244074.2:n.1725T>G
XM_011528010.2:c.1575T>G	XP_011526312.1:p.Asp525Glu
XR_001753685.2:n.1692T>G
XR_001753686.2:n.1692T>G
NM_000527.5:c.1575T>G MANE Select	NP_000518.1:p.Asp525Glu
NM_001195798.2:c.1575T>G	NP_001182727.1:p.Asp525Glu
NM_001195799.2:c.1452T>G	NP_001182728.1:p.Asp484Glu
NM_001195800.2:c.1071T>G	NP_001182729.1:p.Asp357Glu
NM_001195803.2:c.1194T>G	NP_001182732.1:p.Asp398Glu