Canonical Allele Identifier: CA404080898

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11218128A>T (hg19) ; chr19:g.11107452A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107452A>T , CM000681.2:g.11107452A>T	GRCh38
NC_000019.9:g.11218128A>T , CM000681.1:g.11218128A>T	GRCh37
NC_000019.8:g.11079128A>T	NCBI36
NG_009060.1:g.23072A>T , LRG_274:g.23072A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1136A>T	ENSP00000252444.6:p.Asp379Val
ENST00000559340.2:c.878A>T	ENSP00000453696.2:p.Asp293Val
ENST00000560467.2:c.878A>T	ENSP00000453513.2:p.Asp293Val
ENST00000558518.6:c.878A>T MANE Select	ENSP00000454071.1:p.Asp293Val
ENST00000252444.9:c.1132A>T
ENST00000455727.6:c.374A>T	ENSP00000397829.2:p.Asp125Val
ENST00000535915.5:c.755A>T	ENSP00000440520.1:p.Asp252Val
ENST00000545707.5:c.497A>T	ENSP00000437639.1:p.Asp166Val
ENST00000557933.5:c.878A>T	ENSP00000453557.1:p.Asp293Val
ENST00000558013.5:c.878A>T	ENSP00000453346.1:p.Asp293Val
ENST00000558518.5:c.878A>T	ENSP00000454071.1:p.Asp293Val
ENST00000558528.1:n.393A>T
ENST00000560467.1:c.478A>T
NM_000527.4:c.878A>T , LRG_274t1:c.878A>T	NP_000518.1:p.Asp293Val
NM_001195798.1:c.878A>T	NP_001182727.1:p.Asp293Val
NM_001195799.1:c.755A>T	NP_001182728.1:p.Asp252Val
NM_001195800.1:c.374A>T	NP_001182729.1:p.Asp125Val
NM_001195803.1:c.497A>T	NP_001182732.1:p.Asp166Val
XM_011528010.1:c.878A>T	XP_011526312.1:p.Asp293Val
XM_011528011.1:c.497A>T	XP_011526313.1:p.Asp166Val
XR_244074.2:n.1028A>T
XM_011528010.2:c.878A>T	XP_011526312.1:p.Asp293Val
XR_001753685.2:n.995A>T
XR_001753686.2:n.995A>T
NM_000527.5:c.878A>T MANE Select	NP_000518.1:p.Asp293Val
NM_001195798.2:c.878A>T	NP_001182727.1:p.Asp293Val
NM_001195799.2:c.755A>T	NP_001182728.1:p.Asp252Val
NM_001195800.2:c.374A>T	NP_001182729.1:p.Asp125Val
NM_001195803.2:c.497A>T	NP_001182732.1:p.Asp166Val