Canonical Allele Identifier: CA404094753

Gene: LDLR

Linked Data

• ClinVar Variation Id: 684843
• ClinVar RCV Id: RCV000845485
• dbSNP Id: rs879255149
• MyVariant Identifiers: chr19:g.11233855G>T (hg19) ; chr19:g.11123179G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123179G>T , CM000681.2:g.11123179G>T	GRCh38
NC_000019.9:g.11233855G>T , CM000681.1:g.11233855G>T	GRCh37
NC_000019.8:g.11094855G>T	NCBI36
NG_009060.1:g.38799G>T , LRG_274:g.38799G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2404G>T	ENSP00000252444.6:p.Glu802Ter
ENST00000559340.2:c.*215G>T	ENSP00000453696.2:n.*215G>T
ENST00000560467.2:c.2026G>T	ENSP00000453513.2:p.Glu676Ter
ENST00000558518.6:c.2146G>T MANE Select	ENSP00000454071.1:p.Glu716Ter
ENST00000252444.9:c.2400G>T
ENST00000455727.6:c.1642G>T	ENSP00000397829.2:p.Glu548Ter
ENST00000535915.5:c.2023G>T	ENSP00000440520.1:p.Glu675Ter
ENST00000545707.5:c.1612G>T	ENSP00000437639.1:p.Glu538Ter
ENST00000557933.5:c.2146G>T	ENSP00000453557.1:p.Glu716Ter
ENST00000558013.5:c.2146G>T	ENSP00000453346.1:p.Glu716Ter
ENST00000558518.5:c.2146G>T	ENSP00000454071.1:p.Glu716Ter
NM_000527.4:c.2146G>T , LRG_274t1:c.2146G>T	NP_000518.1:p.Glu716Ter
NM_001195798.1:c.2146G>T	NP_001182727.1:p.Glu716Ter
NM_001195799.1:c.2023G>T	NP_001182728.1:p.Glu675Ter
NM_001195800.1:c.1642G>T	NP_001182729.1:p.Glu548Ter
NM_001195803.1:c.1612G>T	NP_001182732.1:p.Glu538Ter
XM_011528010.1:c.2146G>T	XP_011526312.1:p.Glu716Ter
XM_011528011.1:c.1765G>T	XP_011526313.1:p.Glu589Ter
XR_244074.2:n.2156G>T
XM_011528010.2:c.2146G>T	XP_011526312.1:p.Glu716Ter
XR_001753685.2:n.2480G>T
XR_001753686.2:n.2123G>T
NM_000527.5:c.2146G>T MANE Select	NP_000518.1:p.Glu716Ter
NM_001195798.2:c.2146G>T	NP_001182727.1:p.Glu716Ter
NM_001195799.2:c.2023G>T	NP_001182728.1:p.Glu675Ter
NM_001195800.2:c.1642G>T	NP_001182729.1:p.Glu548Ter
NM_001195803.2:c.1612G>T	NP_001182732.1:p.Glu538Ter