Canonical Allele Identifier: CA2322775563

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120411T= , CM000681.2:g.11120411T=	GRCh38
NC_000019.9:g.11231087T= , CM000681.1:g.11231087T=	GRCh37
NC_000019.8:g.11092087T=	NCBI36
NG_009060.1:g.36031T= , LRG_274:g.36031T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2287T=	ENSP00000252444.6:p.Cys763=
ENST00000559340.2:c.*98T=	ENSP00000453696.2:n.*98T=
ENST00000560467.2:c.1909T=	ENSP00000453513.2:p.Cys637=
ENST00000558518.6:c.2029T= MANE Select	ENSP00000454071.1:p.Cys677=
ENST00000252444.9:c.2283T=
ENST00000455727.6:c.1525T=	ENSP00000397829.2:p.Cys509=
ENST00000535915.5:c.1906T=	ENSP00000440520.1:p.Cys636=
ENST00000545707.5:c.1606+178T=	ENSP00000437639.1:n.1606+178T=
ENST00000557933.5:c.2029T=	ENSP00000453557.1:p.Cys677=
ENST00000558013.5:c.2029T=	ENSP00000453346.1:p.Cys677=
ENST00000558518.5:c.2029T=	ENSP00000454071.1:p.Cys677=
NM_000527.4:c.2029T= , LRG_274t1:c.2029T=	NP_000518.1:p.Cys677=
NM_001195798.1:c.2029T=	NP_001182727.1:p.Cys677=
NM_001195799.1:c.1906T=	NP_001182728.1:p.Cys636=
NM_001195800.1:c.1525T=	NP_001182729.1:p.Cys509=
NM_001195803.1:c.1606+178T=	NP_001182732.1:n.1606+178T=
XM_011528010.1:c.2029T=	XP_011526312.1:p.Cys677=
XM_011528011.1:c.1648T=	XP_011526313.1:p.Cys550=
XR_244074.2:n.2039T=
XM_011528010.2:c.2029T=	XP_011526312.1:p.Cys677=
XR_001753685.2:n.2146T=
XR_001753686.2:n.2006T=
NM_000527.5:c.2029T= MANE Select	NP_000518.1:p.Cys677=
NM_001195798.2:c.2029T=	NP_001182727.1:p.Cys677=
NM_001195799.2:c.1906T=	NP_001182728.1:p.Cys636=
NM_001195800.2:c.1525T=	NP_001182729.1:p.Cys509=
NM_001195803.2:c.1606+178T=	NP_001182732.1:n.1606+178T=