Canonical Allele Identifier: CA038175

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252173
• ClinVar RCV Id: RCV000238136 ; RCV000810496
• dbSNP Id: rs770744861
• ExAC: 19:11231081 G / A
• gnomAD v2: 19-11231081-G-A
• gnomAD v4: 19-11120405-G-A
• MyVariant Identifiers: chr19:g.11231081G>A (hg19) ; chr19:g.11120405G>A (hg38)
• PubMed: PMID:11754108 ; PMID:22698793

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120405G>A , CM000681.2:g.11120405G>A	GRCh38
NC_000019.9:g.11231081G>A , CM000681.1:g.11231081G>A	GRCh37
NC_000019.8:g.11092081G>A	NCBI36
NG_009060.1:g.36025G>A , LRG_274:g.36025G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2281G>A	ENSP00000252444.6:p.Gly761Ser
ENST00000559340.2:c.*92G>A	ENSP00000453696.2:n.*92G>A
ENST00000560467.2:c.1903G>A	ENSP00000453513.2:p.Gly635Ser
ENST00000558518.6:c.2023G>A MANE Select	ENSP00000454071.1:p.Gly675Ser
ENST00000252444.9:c.2277G>A
ENST00000455727.6:c.1519G>A	ENSP00000397829.2:p.Gly507Ser
ENST00000535915.5:c.1900G>A	ENSP00000440520.1:p.Gly634Ser
ENST00000545707.5:c.1606+172G>A	ENSP00000437639.1:n.1606+172G>A
ENST00000557933.5:c.2023G>A	ENSP00000453557.1:p.Gly675Ser
ENST00000558013.5:c.2023G>A	ENSP00000453346.1:p.Gly675Ser
ENST00000558518.5:c.2023G>A	ENSP00000454071.1:p.Gly675Ser
ENST00000559340.1:c.604G>A
NM_000527.4:c.2023G>A , LRG_274t1:c.2023G>A	NP_000518.1:p.Gly675Ser
NM_001195798.1:c.2023G>A	NP_001182727.1:p.Gly675Ser
NM_001195799.1:c.1900G>A	NP_001182728.1:p.Gly634Ser
NM_001195800.1:c.1519G>A	NP_001182729.1:p.Gly507Ser
NM_001195803.1:c.1606+172G>A	NP_001182732.1:n.1606+172G>A
XM_011528010.1:c.2023G>A	XP_011526312.1:p.Gly675Ser
XM_011528011.1:c.1642G>A	XP_011526313.1:p.Gly548Ser
XR_244074.2:n.2033G>A
XM_011528010.2:c.2023G>A	XP_011526312.1:p.Gly675Ser
XR_001753685.2:n.2140G>A
XR_001753686.2:n.2000G>A
NM_000527.5:c.2023G>A MANE Select	NP_000518.1:p.Gly675Ser
NM_001195798.2:c.2023G>A	NP_001182727.1:p.Gly675Ser
NM_001195799.2:c.1900G>A	NP_001182728.1:p.Gly634Ser
NM_001195800.2:c.1519G>A	NP_001182729.1:p.Gly507Ser
NM_001195803.2:c.1606+172G>A	NP_001182732.1:n.1606+172G>A