Canonical Allele Identifier: CA038513

Gene: LDLR

Linked Data

• ClinVar Variation Id: 440678
• ClinVar RCV Id: RCV000508717 ; RCV001192332
• dbSNP Id: rs776217028
• ExAC: 19:11231147 G / A
• gnomAD v2: 19-11231147-G-A
• gnomAD v4: 19-11120471-G-A
• MyVariant Identifiers: chr19:g.11231147G>A (hg19) ; chr19:g.11120471G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120471G>A , CM000681.2:g.11120471G>A	GRCh38
NC_000019.9:g.11231147G>A , CM000681.1:g.11231147G>A	GRCh37
NC_000019.8:g.11092147G>A	NCBI36
NG_009060.1:g.36091G>A , LRG_274:g.36091G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2347G>A	ENSP00000252444.6:p.Ala783Thr
ENST00000559340.2:c.*158G>A	ENSP00000453696.2:n.*158G>A
ENST00000560467.2:c.1969G>A	ENSP00000453513.2:p.Ala657Thr
ENST00000558518.6:c.2089G>A MANE Select	ENSP00000454071.1:p.Ala697Thr
ENST00000252444.9:c.2343G>A
ENST00000455727.6:c.1585G>A	ENSP00000397829.2:p.Ala529Thr
ENST00000535915.5:c.1966G>A	ENSP00000440520.1:p.Ala656Thr
ENST00000545707.5:c.1606+238G>A	ENSP00000437639.1:n.1606+238G>A
ENST00000557933.5:c.2089G>A	ENSP00000453557.1:p.Ala697Thr
ENST00000558013.5:c.2089G>A	ENSP00000453346.1:p.Ala697Thr
ENST00000558518.5:c.2089G>A	ENSP00000454071.1:p.Ala697Thr
NM_000527.4:c.2089G>A , LRG_274t1:c.2089G>A	NP_000518.1:p.Ala697Thr
NM_001195798.1:c.2089G>A	NP_001182727.1:p.Ala697Thr
NM_001195799.1:c.1966G>A	NP_001182728.1:p.Ala656Thr
NM_001195800.1:c.1585G>A	NP_001182729.1:p.Ala529Thr
NM_001195803.1:c.1606+238G>A	NP_001182732.1:n.1606+238G>A
XM_011528010.1:c.2089G>A	XP_011526312.1:p.Ala697Thr
XM_011528011.1:c.1708G>A	XP_011526313.1:p.Ala570Thr
XR_244074.2:n.2099G>A
XM_011528010.2:c.2089G>A	XP_011526312.1:p.Ala697Thr
XR_001753685.2:n.2206G>A
XR_001753686.2:n.2066G>A
NM_000527.5:c.2089G>A MANE Select	NP_000518.1:p.Ala697Thr
NM_001195798.2:c.2089G>A	NP_001182727.1:p.Ala697Thr
NM_001195799.2:c.1966G>A	NP_001182728.1:p.Ala656Thr
NM_001195800.2:c.1585G>A	NP_001182729.1:p.Ala529Thr
NM_001195803.2:c.1606+238G>A	NP_001182732.1:n.1606+238G>A