Canonical Allele Identifier: CA404099931

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11240339A>G (hg19) ; chr19:g.11129663A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11129663A>G , CM000681.2:g.11129663A>G	GRCh38
NC_000019.9:g.11240339A>G , CM000681.1:g.11240339A>G	GRCh37
NC_000019.8:g.11101339A>G	NCBI36
NG_009060.1:g.45283A>G , LRG_274:g.45283A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2798A>G	ENSP00000252444.6:p.Tyr933Cys
ENST00000559340.2:c.*609A>G	ENSP00000453696.2:n.*609A>G
ENST00000560467.2:c.2420A>G	ENSP00000453513.2:p.Tyr807Cys
ENST00000558518.6:c.2540A>G MANE Select	ENSP00000454071.1:p.Tyr847Cys
ENST00000252444.9:c.2794A>G
ENST00000455727.6:c.2036A>G	ENSP00000397829.2:p.Tyr679Cys
ENST00000535915.5:c.2417A>G	ENSP00000440520.1:p.Tyr806Cys
ENST00000545707.5:c.2006A>G	ENSP00000437639.1:p.Tyr669Cys
ENST00000557933.5:c.2602A>G	ENSP00000453557.1:p.Thr868Ala
ENST00000558013.5:c.2540A>G	ENSP00000453346.1:p.Tyr847Cys
ENST00000558518.5:c.2540A>G	ENSP00000454071.1:p.Tyr847Cys
ENST00000560628.1:n.108+2009A>G
NM_000527.4:c.2540A>G , LRG_274t1:c.2540A>G	NP_000518.1:p.Tyr847Cys
NM_001195798.1:c.2540A>G	NP_001182727.1:p.Tyr847Cys
NM_001195799.1:c.2417A>G	NP_001182728.1:p.Tyr806Cys
NM_001195800.1:c.2036A>G	NP_001182729.1:p.Tyr679Cys
NM_001195803.1:c.2006A>G	NP_001182732.1:p.Tyr669Cys
XM_011528010.1:c.2462A>G	XP_011526312.1:p.Tyr821Cys
XM_011528011.1:c.2159A>G	XP_011526313.1:p.Tyr720Cys
XM_011528010.2:c.2462A>G	XP_011526312.1:p.Tyr821Cys
XR_001753685.2:n.2874A>G
XR_001753686.2:n.2517A>G
NM_000527.5:c.2540A>G MANE Select	NP_000518.1:p.Tyr847Cys
NM_001195798.2:c.2540A>G	NP_001182727.1:p.Tyr847Cys
NM_001195799.2:c.2417A>G	NP_001182728.1:p.Tyr806Cys
NM_001195800.2:c.2036A>G	NP_001182729.1:p.Tyr679Cys
NM_001195803.2:c.2006A>G	NP_001182732.1:p.Tyr669Cys