Canonical Allele Identifier: CA404099470

Gene: LDLR

Linked Data

• dbSNP Id: rs1568619741
• MyVariant Identifiers: chr19:g.11240296G>T (hg19) ; chr19:g.11129620G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129620G>T , CM000681.2:g.11129620G>T	GRCh38
NC_000019.9:g.11240296G>T , CM000681.1:g.11240296G>T	GRCh37
NC_000019.8:g.11101296G>T	NCBI36
NG_009060.1:g.45240G>T , LRG_274:g.45240G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2755G>T	ENSP00000252444.6:p.Glu919Ter
ENST00000559340.2:c.*566G>T	ENSP00000453696.2:n.*566G>T
ENST00000560467.2:c.2377G>T	ENSP00000453513.2:p.Glu793Ter
ENST00000558518.6:c.2497G>T MANE Select	ENSP00000454071.1:p.Glu833Ter
ENST00000252444.9:c.2751G>T
ENST00000455727.6:c.1993G>T	ENSP00000397829.2:p.Glu665Ter
ENST00000535915.5:c.2374G>T	ENSP00000440520.1:p.Glu792Ter
ENST00000545707.5:c.1963G>T	ENSP00000437639.1:p.Glu655Ter
ENST00000557933.5:c.2559G>T	ENSP00000453557.1:p.Gln853His
ENST00000558013.5:c.2497G>T	ENSP00000453346.1:p.Glu833Ter
ENST00000558518.5:c.2497G>T	ENSP00000454071.1:p.Glu833Ter
ENST00000560628.1:n.108+1966G>T
NM_000527.4:c.2497G>T , LRG_274t1:c.2497G>T	NP_000518.1:p.Glu833Ter
NM_001195798.1:c.2497G>T	NP_001182727.1:p.Glu833Ter
NM_001195799.1:c.2374G>T	NP_001182728.1:p.Glu792Ter
NM_001195800.1:c.1993G>T	NP_001182729.1:p.Glu665Ter
NM_001195803.1:c.1963G>T	NP_001182732.1:p.Glu655Ter
XM_011528010.1:c.2419G>T	XP_011526312.1:p.Glu807Ter
XM_011528011.1:c.2116G>T	XP_011526313.1:p.Glu706Ter
XM_011528010.2:c.2419G>T	XP_011526312.1:p.Glu807Ter
XR_001753685.2:n.2831G>T
XR_001753686.2:n.2474G>T
NM_000527.5:c.2497G>T MANE Select	NP_000518.1:p.Glu833Ter
NM_001195798.2:c.2497G>T	NP_001182727.1:p.Glu833Ter
NM_001195799.2:c.2374G>T	NP_001182728.1:p.Glu792Ter
NM_001195800.2:c.1993G>T	NP_001182729.1:p.Glu665Ter
NM_001195803.2:c.1963G>T	NP_001182732.1:p.Glu655Ter