Canonical Allele Identifier: CA404096702

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11238706A>T (hg19) ; chr19:g.11128030A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128030A>T , CM000681.2:g.11128030A>T	GRCh38
NC_000019.9:g.11238706A>T , CM000681.1:g.11238706A>T	GRCh37
NC_000019.8:g.11099706A>T	NCBI36
NG_009060.1:g.43650A>T , LRG_274:g.43650A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2592A>T	ENSP00000252444.6:p.Arg864Ser
ENST00000559340.2:c.*403A>T	ENSP00000453696.2:n.*403A>T
ENST00000560467.2:c.2214A>T	ENSP00000453513.2:p.Arg738Ser
ENST00000558518.6:c.2334A>T MANE Select	ENSP00000454071.1:p.Arg778Ser
ENST00000252444.9:c.2588A>T
ENST00000455727.6:c.1830A>T	ENSP00000397829.2:p.Arg610Ser
ENST00000535915.5:c.2211A>T	ENSP00000440520.1:p.Arg737Ser
ENST00000545707.5:c.1800A>T	ENSP00000437639.1:p.Arg600Ser
ENST00000557933.5:c.2334A>T	ENSP00000453557.1:p.Arg778Ser
ENST00000558013.5:c.2334A>T	ENSP00000453346.1:p.Arg778Ser
ENST00000558518.5:c.2334A>T	ENSP00000454071.1:p.Arg778Ser
ENST00000560628.1:n.108+376A>T
NM_000527.4:c.2334A>T , LRG_274t1:c.2334A>T	NP_000518.1:p.Arg778Ser
NM_001195798.1:c.2334A>T	NP_001182727.1:p.Arg778Ser
NM_001195799.1:c.2211A>T	NP_001182728.1:p.Arg737Ser
NM_001195800.1:c.1830A>T	NP_001182729.1:p.Arg610Ser
NM_001195803.1:c.1800A>T	NP_001182732.1:p.Arg600Ser
XM_011528010.1:c.2312-1483A>T	XP_011526312.1:n.2312-1483A>T
XM_011528011.1:c.1953A>T	XP_011526313.1:p.Arg651Ser
XR_244074.2:n.2344A>T
XM_011528010.2:c.2312-1483A>T	XP_011526312.1:n.2312-1483A>T
XR_001753685.2:n.2668A>T
XR_001753686.2:n.2311A>T
NM_000527.5:c.2334A>T MANE Select	NP_000518.1:p.Arg778Ser
NM_001195798.2:c.2334A>T	NP_001182727.1:p.Arg778Ser
NM_001195799.2:c.2211A>T	NP_001182728.1:p.Arg737Ser
NM_001195800.2:c.1830A>T	NP_001182729.1:p.Arg610Ser
NM_001195803.2:c.1800A>T	NP_001182732.1:p.Arg600Ser