Canonical Allele Identifier: CA039915

Gene: LDLR

Linked Data

• ClinVar Variation Id: 920818
• ClinVar RCV Id: RCV001179826
• dbSNP Id: rs769318961
• ExAC: 19:11238719 A / C
• gnomAD v2: 19-11238719-A-C
• gnomAD v4: 19-11128043-A-C
• MyVariant Identifiers: chr19:g.11238719A>C (hg19) ; chr19:g.11128043A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128043A>C , CM000681.2:g.11128043A>C	GRCh38
NC_000019.9:g.11238719A>C , CM000681.1:g.11238719A>C	GRCh37
NC_000019.8:g.11099719A>C	NCBI36
NG_009060.1:g.43663A>C , LRG_274:g.43663A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2605A>C	ENSP00000252444.6:p.Lys869Gln
ENST00000559340.2:c.*416A>C	ENSP00000453696.2:n.*416A>C
ENST00000560467.2:c.2227A>C	ENSP00000453513.2:p.Lys743Gln
ENST00000558518.6:c.2347A>C MANE Select	ENSP00000454071.1:p.Lys783Gln
ENST00000252444.9:c.2601A>C
ENST00000455727.6:c.1843A>C	ENSP00000397829.2:p.Lys615Gln
ENST00000535915.5:c.2224A>C	ENSP00000440520.1:p.Lys742Gln
ENST00000545707.5:c.1813A>C	ENSP00000437639.1:p.Lys605Gln
ENST00000557933.5:c.2347A>C	ENSP00000453557.1:p.Lys783Gln
ENST00000558013.5:c.2347A>C	ENSP00000453346.1:p.Lys783Gln
ENST00000558518.5:c.2347A>C	ENSP00000454071.1:p.Lys783Gln
ENST00000560628.1:n.108+389A>C
NM_000527.4:c.2347A>C , LRG_274t1:c.2347A>C	NP_000518.1:p.Lys783Gln
NM_001195798.1:c.2347A>C	NP_001182727.1:p.Lys783Gln
NM_001195799.1:c.2224A>C	NP_001182728.1:p.Lys742Gln
NM_001195800.1:c.1843A>C	NP_001182729.1:p.Lys615Gln
NM_001195803.1:c.1813A>C	NP_001182732.1:p.Lys605Gln
XM_011528010.1:c.2312-1470A>C	XP_011526312.1:n.2312-1470A>C
XM_011528011.1:c.1966A>C	XP_011526313.1:p.Lys656Gln
XR_244074.2:n.2357A>C
XM_011528010.2:c.2312-1470A>C	XP_011526312.1:n.2312-1470A>C
XR_001753685.2:n.2681A>C
XR_001753686.2:n.2324A>C
NM_000527.5:c.2347A>C MANE Select	NP_000518.1:p.Lys783Gln
NM_001195798.2:c.2347A>C	NP_001182727.1:p.Lys783Gln
NM_001195799.2:c.2224A>C	NP_001182728.1:p.Lys742Gln
NM_001195800.2:c.1843A>C	NP_001182729.1:p.Lys615Gln
NM_001195803.2:c.1813A>C	NP_001182732.1:p.Lys605Gln