Canonical Allele Identifier: CA039330

Gene: LDLR

Linked Data

• dbSNP Id: rs773381766
• ExAC: 19:11233985 T / C
• gnomAD v2: 19-11233985-T-C
• gnomAD v3: 19-11123309-T-C
• gnomAD v4: 19-11123309-T-C
• MyVariant Identifiers: chr19:g.11233985T>C (hg19) ; chr19:g.11123309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123309T>C , CM000681.2:g.11123309T>C	GRCh38
NC_000019.9:g.11233985T>C , CM000681.1:g.11233985T>C	GRCh37
NC_000019.8:g.11094985T>C	NCBI36
NG_009060.1:g.38929T>C , LRG_274:g.38929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2534T>C	ENSP00000252444.6:p.Leu845Pro
ENST00000559340.2:c.*345T>C	ENSP00000453696.2:n.*345T>C
ENST00000560467.2:c.2156T>C	ENSP00000453513.2:p.Leu719Pro
ENST00000558518.6:c.2276T>C MANE Select	ENSP00000454071.1:p.Leu759Pro
ENST00000252444.9:c.2530T>C
ENST00000455727.6:c.1772T>C	ENSP00000397829.2:p.Leu591Pro
ENST00000535915.5:c.2153T>C	ENSP00000440520.1:p.Leu718Pro
ENST00000545707.5:c.1742T>C	ENSP00000437639.1:p.Leu581Pro
ENST00000557933.5:c.2276T>C	ENSP00000453557.1:p.Leu759Pro
ENST00000558013.5:c.2276T>C	ENSP00000453346.1:p.Leu759Pro
ENST00000558518.5:c.2276T>C	ENSP00000454071.1:p.Leu759Pro
NM_000527.4:c.2276T>C , LRG_274t1:c.2276T>C	NP_000518.1:p.Leu759Pro
NM_001195798.1:c.2276T>C	NP_001182727.1:p.Leu759Pro
NM_001195799.1:c.2153T>C	NP_001182728.1:p.Leu718Pro
NM_001195800.1:c.1772T>C	NP_001182729.1:p.Leu591Pro
NM_001195803.1:c.1742T>C	NP_001182732.1:p.Leu581Pro
XM_011528010.1:c.2276T>C	XP_011526312.1:p.Leu759Pro
XM_011528011.1:c.1895T>C	XP_011526313.1:p.Leu632Pro
XR_244074.2:n.2286T>C
XM_011528010.2:c.2276T>C	XP_011526312.1:p.Leu759Pro
XR_001753685.2:n.2610T>C
XR_001753686.2:n.2253T>C
NM_000527.5:c.2276T>C MANE Select	NP_000518.1:p.Leu759Pro
NM_001195798.2:c.2276T>C	NP_001182727.1:p.Leu759Pro
NM_001195799.2:c.2153T>C	NP_001182728.1:p.Leu718Pro
NM_001195800.2:c.1772T>C	NP_001182729.1:p.Leu591Pro
NM_001195803.2:c.1742T>C	NP_001182732.1:p.Leu581Pro