Canonical Allele Identifier: CA404076269

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11215930C>A (hg19) ; chr19:g.11105254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105254C>A , CM000681.2:g.11105254C>A	GRCh38
NC_000019.9:g.11215930C>A , CM000681.1:g.11215930C>A	GRCh37
NC_000019.8:g.11076930C>A	NCBI36
NG_009060.1:g.20874C>A , LRG_274:g.20874C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.606C>A	ENSP00000252444.6:p.Cys202Ter
ENST00000559340.2:c.348C>A	ENSP00000453696.2:p.Cys116Ter
ENST00000560467.2:c.348C>A	ENSP00000453513.2:p.Cys116Ter
ENST00000558518.6:c.348C>A MANE Select	ENSP00000454071.1:p.Cys116Ter
ENST00000252444.9:c.602C>A
ENST00000455727.6:c.314-2138C>A	ENSP00000397829.2:n.314-2138C>A
ENST00000535915.5:c.225C>A	ENSP00000440520.1:p.Cys75Ter
ENST00000545707.5:c.314-1311C>A	ENSP00000437639.1:n.314-1311C>A
ENST00000557933.5:c.348C>A	ENSP00000453557.1:p.Cys116Ter
ENST00000558013.5:c.348C>A	ENSP00000453346.1:p.Cys116Ter
ENST00000558518.5:c.348C>A	ENSP00000454071.1:p.Cys116Ter
NM_000527.4:c.348C>A , LRG_274t1:c.348C>A	NP_000518.1:p.Cys116Ter
NM_001195798.1:c.348C>A	NP_001182727.1:p.Cys116Ter
NM_001195799.1:c.225C>A	NP_001182728.1:p.Cys75Ter
NM_001195800.1:c.314-2138C>A	NP_001182729.1:n.314-2138C>A
NM_001195803.1:c.314-1311C>A	NP_001182732.1:n.314-1311C>A
XM_011528010.1:c.348C>A	XP_011526312.1:p.Cys116Ter
XM_011528011.1:c.314-1311C>A	XP_011526313.1:n.314-1311C>A
XR_244074.2:n.498C>A
XM_011528010.2:c.348C>A	XP_011526312.1:p.Cys116Ter
XR_001753685.2:n.465C>A
XR_001753686.2:n.465C>A
NM_000527.5:c.348C>A MANE Select	NP_000518.1:p.Cys116Ter
NM_001195798.2:c.348C>A	NP_001182727.1:p.Cys116Ter
NM_001195799.2:c.225C>A	NP_001182728.1:p.Cys75Ter
NM_001195800.2:c.314-2138C>A	NP_001182729.1:n.314-2138C>A
NM_001195803.2:c.314-1311C>A	NP_001182732.1:n.314-1311C>A