Canonical Allele Identifier: CA404098406

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11240207G>T (hg19) ; chr19:g.11129531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129531G>T , CM000681.2:g.11129531G>T	GRCh38
NC_000019.9:g.11240207G>T , CM000681.1:g.11240207G>T	GRCh37
NC_000019.8:g.11101207G>T	NCBI36
NG_009060.1:g.45151G>T , LRG_274:g.45151G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2666G>T	ENSP00000252444.6:p.Cys889Phe
ENST00000559340.2:c.*477G>T	ENSP00000453696.2:n.*477G>T
ENST00000560467.2:c.2288G>T	ENSP00000453513.2:p.Cys763Phe
ENST00000558518.6:c.2408G>T MANE Select	ENSP00000454071.1:p.Cys803Phe
ENST00000252444.9:c.2662G>T
ENST00000455727.6:c.1904G>T	ENSP00000397829.2:p.Cys635Phe
ENST00000535915.5:c.2285G>T	ENSP00000440520.1:p.Cys762Phe
ENST00000545707.5:c.1874G>T	ENSP00000437639.1:p.Cys625Phe
ENST00000557933.5:c.2470G>T	ENSP00000453557.1:p.Ala824Ser
ENST00000558013.5:c.2408G>T	ENSP00000453346.1:p.Cys803Phe
ENST00000558518.5:c.2408G>T	ENSP00000454071.1:p.Cys803Phe
ENST00000560628.1:n.108+1877G>T
NM_000527.4:c.2408G>T , LRG_274t1:c.2408G>T	NP_000518.1:p.Cys803Phe
NM_001195798.1:c.2408G>T	NP_001182727.1:p.Cys803Phe
NM_001195799.1:c.2285G>T	NP_001182728.1:p.Cys762Phe
NM_001195800.1:c.1904G>T	NP_001182729.1:p.Cys635Phe
NM_001195803.1:c.1874G>T	NP_001182732.1:p.Cys625Phe
XM_011528010.1:c.2330G>T	XP_011526312.1:p.Cys777Phe
XM_011528011.1:c.2027G>T	XP_011526313.1:p.Cys676Phe
XR_244074.2:n.2418G>T
XM_011528010.2:c.2330G>T	XP_011526312.1:p.Cys777Phe
XR_001753685.2:n.2742G>T
XR_001753686.2:n.2385G>T
NM_000527.5:c.2408G>T MANE Select	NP_000518.1:p.Cys803Phe
NM_001195798.2:c.2408G>T	NP_001182727.1:p.Cys803Phe
NM_001195799.2:c.2285G>T	NP_001182728.1:p.Cys762Phe
NM_001195800.2:c.1904G>T	NP_001182729.1:p.Cys635Phe
NM_001195803.2:c.1874G>T	NP_001182732.1:p.Cys625Phe