Canonical Allele Identifier: CA404099252

Gene: LDLR

Linked Data

• ClinVar Variation Id: 963080
• ClinVar RCV Id: RCV002227256 ; RCV001237054
• dbSNP Id: rs2077688361
• MyVariant Identifiers: chr19:g.11240279T>A (hg19) ; chr19:g.11129603T>A (hg38)
• ERepo: CA404099252/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129603T>A , CM000681.2:g.11129603T>A	GRCh38
NC_000019.9:g.11240279T>A , CM000681.1:g.11240279T>A	GRCh37
NC_000019.8:g.11101279T>A	NCBI36
NG_009060.1:g.45223T>A , LRG_274:g.45223T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2738T>A	ENSP00000252444.6:p.Val913Asp
ENST00000559340.2:c.*549T>A	ENSP00000453696.2:n.*549T>A
ENST00000560467.2:c.2360T>A	ENSP00000453513.2:p.Val787Asp
ENST00000558518.6:c.2480T>A MANE Select	ENSP00000454071.1:p.Val827Asp
ENST00000252444.9:c.2734T>A
ENST00000455727.6:c.1976T>A	ENSP00000397829.2:p.Val659Asp
ENST00000535915.5:c.2357T>A	ENSP00000440520.1:p.Val786Asp
ENST00000545707.5:c.1946T>A	ENSP00000437639.1:p.Val649Asp
ENST00000557933.5:c.2542T>A	ENSP00000453557.1:p.Ser848Thr
ENST00000558013.5:c.2480T>A	ENSP00000453346.1:p.Val827Asp
ENST00000558518.5:c.2480T>A	ENSP00000454071.1:p.Val827Asp
ENST00000560628.1:n.108+1949T>A
NM_000527.4:c.2480T>A , LRG_274t1:c.2480T>A	NP_000518.1:p.Val827Asp
NM_001195798.1:c.2480T>A	NP_001182727.1:p.Val827Asp
NM_001195799.1:c.2357T>A	NP_001182728.1:p.Val786Asp
NM_001195800.1:c.1976T>A	NP_001182729.1:p.Val659Asp
NM_001195803.1:c.1946T>A	NP_001182732.1:p.Val649Asp
XM_011528010.1:c.2402T>A	XP_011526312.1:p.Val801Asp
XM_011528011.1:c.2099T>A	XP_011526313.1:p.Val700Asp
XM_011528010.2:c.2402T>A	XP_011526312.1:p.Val801Asp
XR_001753685.2:n.2814T>A
XR_001753686.2:n.2457T>A
NM_000527.5:c.2480T>A MANE Select	NP_000518.1:p.Val827Asp
NM_001195798.2:c.2480T>A	NP_001182727.1:p.Val827Asp
NM_001195799.2:c.2357T>A	NP_001182728.1:p.Val786Asp
NM_001195800.2:c.1976T>A	NP_001182729.1:p.Val659Asp
NM_001195803.2:c.1946T>A	NP_001182732.1:p.Val649Asp