Canonical Allele Identifier: CA404096752

Gene: LDLR

Linked Data

• gnomAD v4: 19-11128040-A-C
• MyVariant Identifiers: chr19:g.11238716A>C (hg19) ; chr19:g.11128040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128040A>C , CM000681.2:g.11128040A>C	GRCh38
NC_000019.9:g.11238716A>C , CM000681.1:g.11238716A>C	GRCh37
NC_000019.8:g.11099716A>C	NCBI36
NG_009060.1:g.43660A>C , LRG_274:g.43660A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2602A>C	ENSP00000252444.6:p.Lys868Gln
ENST00000559340.2:c.*413A>C	ENSP00000453696.2:n.*413A>C
ENST00000560467.2:c.2224A>C	ENSP00000453513.2:p.Lys742Gln
ENST00000558518.6:c.2344A>C MANE Select	ENSP00000454071.1:p.Lys782Gln
ENST00000252444.9:c.2598A>C
ENST00000455727.6:c.1840A>C	ENSP00000397829.2:p.Lys614Gln
ENST00000535915.5:c.2221A>C	ENSP00000440520.1:p.Lys741Gln
ENST00000545707.5:c.1810A>C	ENSP00000437639.1:p.Lys604Gln
ENST00000557933.5:c.2344A>C	ENSP00000453557.1:p.Lys782Gln
ENST00000558013.5:c.2344A>C	ENSP00000453346.1:p.Lys782Gln
ENST00000558518.5:c.2344A>C	ENSP00000454071.1:p.Lys782Gln
ENST00000560628.1:n.108+386A>C
NM_000527.4:c.2344A>C , LRG_274t1:c.2344A>C	NP_000518.1:p.Lys782Gln
NM_001195798.1:c.2344A>C	NP_001182727.1:p.Lys782Gln
NM_001195799.1:c.2221A>C	NP_001182728.1:p.Lys741Gln
NM_001195800.1:c.1840A>C	NP_001182729.1:p.Lys614Gln
NM_001195803.1:c.1810A>C	NP_001182732.1:p.Lys604Gln
XM_011528010.1:c.2312-1473A>C	XP_011526312.1:n.2312-1473A>C
XM_011528011.1:c.1963A>C	XP_011526313.1:p.Lys655Gln
XR_244074.2:n.2354A>C
XM_011528010.2:c.2312-1473A>C	XP_011526312.1:n.2312-1473A>C
XR_001753685.2:n.2678A>C
XR_001753686.2:n.2321A>C
NM_000527.5:c.2344A>C MANE Select	NP_000518.1:p.Lys782Gln
NM_001195798.2:c.2344A>C	NP_001182727.1:p.Lys782Gln
NM_001195799.2:c.2221A>C	NP_001182728.1:p.Lys741Gln
NM_001195800.2:c.1840A>C	NP_001182729.1:p.Lys614Gln
NM_001195803.2:c.1810A>C	NP_001182732.1:p.Lys604Gln