Canonical Allele Identifier: CA404095125

Gene: LDLR

Linked Data

• gnomAD v4: 19-11123253-C-A
• MyVariant Identifiers: chr19:g.11233929C>A (hg19) ; chr19:g.11123253C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123253C>A , CM000681.2:g.11123253C>A	GRCh38
NC_000019.9:g.11233929C>A , CM000681.1:g.11233929C>A	GRCh37
NC_000019.8:g.11094929C>A	NCBI36
NG_009060.1:g.38873C>A , LRG_274:g.38873C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2478C>A	ENSP00000252444.6:p.His826Gln
ENST00000559340.2:c.*289C>A	ENSP00000453696.2:n.*289C>A
ENST00000560467.2:c.2100C>A	ENSP00000453513.2:p.His700Gln
ENST00000558518.6:c.2220C>A MANE Select	ENSP00000454071.1:p.His740Gln
ENST00000252444.9:c.2474C>A
ENST00000455727.6:c.1716C>A	ENSP00000397829.2:p.His572Gln
ENST00000535915.5:c.2097C>A	ENSP00000440520.1:p.His699Gln
ENST00000545707.5:c.1686C>A	ENSP00000437639.1:p.His562Gln
ENST00000557933.5:c.2220C>A	ENSP00000453557.1:p.His740Gln
ENST00000558013.5:c.2220C>A	ENSP00000453346.1:p.His740Gln
ENST00000558518.5:c.2220C>A	ENSP00000454071.1:p.His740Gln
NM_000527.4:c.2220C>A , LRG_274t1:c.2220C>A	NP_000518.1:p.His740Gln
NM_001195798.1:c.2220C>A	NP_001182727.1:p.His740Gln
NM_001195799.1:c.2097C>A	NP_001182728.1:p.His699Gln
NM_001195800.1:c.1716C>A	NP_001182729.1:p.His572Gln
NM_001195803.1:c.1686C>A	NP_001182732.1:p.His562Gln
XM_011528010.1:c.2220C>A	XP_011526312.1:p.His740Gln
XM_011528011.1:c.1839C>A	XP_011526313.1:p.His613Gln
XR_244074.2:n.2230C>A
XM_011528010.2:c.2220C>A	XP_011526312.1:p.His740Gln
XR_001753685.2:n.2554C>A
XR_001753686.2:n.2197C>A
NM_000527.5:c.2220C>A MANE Select	NP_000518.1:p.His740Gln
NM_001195798.2:c.2220C>A	NP_001182727.1:p.His740Gln
NM_001195799.2:c.2097C>A	NP_001182728.1:p.His699Gln
NM_001195800.2:c.1716C>A	NP_001182729.1:p.His572Gln
NM_001195803.2:c.1686C>A	NP_001182732.1:p.His562Gln