Canonical Allele Identifier: CA404079083

Gene: LDLR

Linked Data

• gnomAD v4: 19-11105589-A-T
• MyVariant Identifiers: chr19:g.11216265A>T (hg19) ; chr19:g.11105589A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105589A>T , CM000681.2:g.11105589A>T	GRCh38
NC_000019.9:g.11216265A>T , CM000681.1:g.11216265A>T	GRCh37
NC_000019.8:g.11077265A>T	NCBI36
NG_009060.1:g.21209A>T , LRG_274:g.21209A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.941A>T	ENSP00000252444.6:p.Glu314Val
ENST00000559340.2:c.683A>T	ENSP00000453696.2:p.Glu228Val
ENST00000560467.2:c.683A>T	ENSP00000453513.2:p.Glu228Val
ENST00000558518.6:c.683A>T MANE Select	ENSP00000454071.1:p.Glu228Val
ENST00000252444.9:c.937A>T
ENST00000455727.6:c.314-1803A>T	ENSP00000397829.2:n.314-1803A>T
ENST00000535915.5:c.560A>T	ENSP00000440520.1:p.Glu187Val
ENST00000545707.5:c.314-976A>T	ENSP00000437639.1:n.314-976A>T
ENST00000557933.5:c.683A>T	ENSP00000453557.1:p.Glu228Val
ENST00000558013.5:c.683A>T	ENSP00000453346.1:p.Glu228Val
ENST00000558518.5:c.683A>T	ENSP00000454071.1:p.Glu228Val
ENST00000560467.1:c.283A>T
NM_000527.4:c.683A>T , LRG_274t1:c.683A>T	NP_000518.1:p.Glu228Val
NM_001195798.1:c.683A>T	NP_001182727.1:p.Glu228Val
NM_001195799.1:c.560A>T	NP_001182728.1:p.Glu187Val
NM_001195800.1:c.314-1803A>T	NP_001182729.1:n.314-1803A>T
NM_001195803.1:c.314-976A>T	NP_001182732.1:n.314-976A>T
XM_011528010.1:c.683A>T	XP_011526312.1:p.Glu228Val
XM_011528011.1:c.314-976A>T	XP_011526313.1:n.314-976A>T
XR_244074.2:n.833A>T
XM_011528010.2:c.683A>T	XP_011526312.1:p.Glu228Val
XR_001753685.2:n.800A>T
XR_001753686.2:n.800A>T
NM_000527.5:c.683A>T MANE Select	NP_000518.1:p.Glu228Val
NM_001195798.2:c.683A>T	NP_001182727.1:p.Glu228Val
NM_001195799.2:c.560A>T	NP_001182728.1:p.Glu187Val
NM_001195800.2:c.314-1803A>T	NP_001182729.1:n.314-1803A>T
NM_001195803.2:c.314-976A>T	NP_001182732.1:n.314-976A>T