Canonical Allele Identifier: CA037634

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252140
• ClinVar RCV Id: RCV000238364
• dbSNP Id: rs773693079
• ExAC: 19:11230897 A / C
• gnomAD v2: 19-11230897-A-C
• gnomAD v4: 19-11120221-A-C
• MyVariant Identifiers: chr19:g.11230897A>C (hg19) ; chr19:g.11120221A>C (hg38)
• PubMed: PMID:20809525

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120221A>C , CM000681.2:g.11120221A>C	GRCh38
NC_000019.9:g.11230897A>C , CM000681.1:g.11230897A>C	GRCh37
NC_000019.8:g.11091897A>C	NCBI36
NG_009060.1:g.35841A>C , LRG_274:g.35841A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2233A>C	ENSP00000252444.6:p.Thr745Pro
ENST00000559340.2:c.*44A>C	ENSP00000453696.2:n.*44A>C
ENST00000560467.2:c.1855A>C	ENSP00000453513.2:p.Thr619Pro
ENST00000558518.6:c.1975A>C MANE Select	ENSP00000454071.1:p.Thr659Pro
ENST00000252444.9:c.2229A>C
ENST00000455727.6:c.1471A>C	ENSP00000397829.2:p.Thr491Pro
ENST00000535915.5:c.1852A>C	ENSP00000440520.1:p.Thr618Pro
ENST00000545707.5:c.1594A>C	ENSP00000437639.1:p.Thr532Pro
ENST00000557933.5:c.1975A>C	ENSP00000453557.1:p.Thr659Pro
ENST00000558013.5:c.1975A>C	ENSP00000453346.1:p.Thr659Pro
ENST00000558518.5:c.1975A>C	ENSP00000454071.1:p.Thr659Pro
ENST00000559340.1:c.556A>C
NM_000527.4:c.1975A>C , LRG_274t1:c.1975A>C	NP_000518.1:p.Thr659Pro
NM_001195798.1:c.1975A>C	NP_001182727.1:p.Thr659Pro
NM_001195799.1:c.1852A>C	NP_001182728.1:p.Thr618Pro
NM_001195800.1:c.1471A>C	NP_001182729.1:p.Thr491Pro
NM_001195803.1:c.1594A>C	NP_001182732.1:p.Thr532Pro
XM_011528010.1:c.1975A>C	XP_011526312.1:p.Thr659Pro
XM_011528011.1:c.1594A>C	XP_011526313.1:p.Thr532Pro
XR_244074.2:n.1985A>C
XM_011528010.2:c.1975A>C	XP_011526312.1:p.Thr659Pro
XR_001753685.2:n.2092A>C
XR_001753686.2:n.1952A>C
NM_000527.5:c.1975A>C MANE Select	NP_000518.1:p.Thr659Pro
NM_001195798.2:c.1975A>C	NP_001182727.1:p.Thr659Pro
NM_001195799.2:c.1852A>C	NP_001182728.1:p.Thr618Pro
NM_001195800.2:c.1471A>C	NP_001182729.1:p.Thr491Pro
NM_001195803.2:c.1594A>C	NP_001182732.1:p.Thr532Pro