Canonical Allele Identifier: CA404089788

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1684855
• ClinVar RCV Id: RCV002247947
• dbSNP Id: rs1184797111
• gnomAD v2: 19-11227619-C-A
• gnomAD v4: 19-11116943-C-A
• MyVariant Identifiers: chr19:g.11227619C>A (hg19) ; chr19:g.11116943C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116943C>A , CM000681.2:g.11116943C>A	GRCh38
NC_000019.9:g.11227619C>A , CM000681.1:g.11227619C>A	GRCh37
NC_000019.8:g.11088619C>A	NCBI36
NG_009060.1:g.32563C>A , LRG_274:g.32563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2048C>A	ENSP00000252444.6:p.Thr683Asn
ENST00000559340.2:c.1705+731C>A	ENSP00000453696.2:n.1705+731C>A
ENST00000560467.2:c.1670C>A	ENSP00000453513.2:p.Thr557Asn
ENST00000558518.6:c.1790C>A MANE Select	ENSP00000454071.1:p.Thr597Asn
ENST00000252444.9:c.2044C>A
ENST00000455727.6:c.1286C>A	ENSP00000397829.2:p.Thr429Asn
ENST00000535915.5:c.1667C>A	ENSP00000440520.1:p.Thr556Asn
ENST00000545707.5:c.1409C>A	ENSP00000437639.1:p.Thr470Asn
ENST00000557933.5:c.1790C>A	ENSP00000453557.1:p.Thr597Asn
ENST00000558013.5:c.1790C>A	ENSP00000453346.1:p.Thr597Asn
ENST00000558518.5:c.1790C>A	ENSP00000454071.1:p.Thr597Asn
ENST00000559340.1:c.426+731C>A
NM_000527.4:c.1790C>A , LRG_274t1:c.1790C>A	NP_000518.1:p.Thr597Asn
NM_001195798.1:c.1790C>A	NP_001182727.1:p.Thr597Asn
NM_001195799.1:c.1667C>A	NP_001182728.1:p.Thr556Asn
NM_001195800.1:c.1286C>A	NP_001182729.1:p.Thr429Asn
NM_001195803.1:c.1409C>A	NP_001182732.1:p.Thr470Asn
XM_011528010.1:c.1790C>A	XP_011526312.1:p.Thr597Asn
XM_011528011.1:c.1409C>A	XP_011526313.1:p.Thr470Asn
XR_244074.2:n.1855+731C>A
XM_011528010.2:c.1790C>A	XP_011526312.1:p.Thr597Asn
XR_001753685.2:n.1907C>A
XR_001753686.2:n.1822+731C>A
NM_000527.5:c.1790C>A MANE Select	NP_000518.1:p.Thr597Asn
NM_001195798.2:c.1790C>A	NP_001182727.1:p.Thr597Asn
NM_001195799.2:c.1667C>A	NP_001182728.1:p.Thr556Asn
NM_001195800.2:c.1286C>A	NP_001182729.1:p.Thr429Asn
NM_001195803.2:c.1409C>A	NP_001182732.1:p.Thr470Asn