Canonical Allele Identifier: CA2322770784

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111627T= , CM000681.2:g.11111627T=	GRCh38
NC_000019.9:g.11222303T= , CM000681.1:g.11222303T=	GRCh37
NC_000019.8:g.11083303T=	NCBI36
NG_009060.1:g.27247T= , LRG_274:g.27247T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1432T=	ENSP00000252444.6:p.Cys478=
ENST00000559340.2:c.1174T=	ENSP00000453696.2:p.Cys392=
ENST00000560467.2:c.1054T=	ENSP00000453513.2:p.Cys352=
ENST00000558518.6:c.1174T= MANE Select	ENSP00000454071.1:p.Cys392=
ENST00000252444.9:c.1428T=
ENST00000455727.6:c.670T=	ENSP00000397829.2:p.Cys224=
ENST00000535915.5:c.1051T=	ENSP00000440520.1:p.Cys351=
ENST00000545707.5:c.793T=	ENSP00000437639.1:p.Cys265=
ENST00000557933.5:c.1174T=	ENSP00000453557.1:p.Cys392=
ENST00000558013.5:c.1174T=	ENSP00000453346.1:p.Cys392=
ENST00000558518.5:c.1174T=	ENSP00000454071.1:p.Cys392=
ENST00000560173.1:n.173T=
ENST00000560467.1:c.654T=
NM_000527.4:c.1174T= , LRG_274t1:c.1174T=	NP_000518.1:p.Cys392=
NM_001195798.1:c.1174T=	NP_001182727.1:p.Cys392=
NM_001195799.1:c.1051T=	NP_001182728.1:p.Cys351=
NM_001195800.1:c.670T=	NP_001182729.1:p.Cys224=
NM_001195803.1:c.793T=	NP_001182732.1:p.Cys265=
XM_011528010.1:c.1174T=	XP_011526312.1:p.Cys392=
XM_011528011.1:c.793T=	XP_011526313.1:p.Cys265=
XR_244074.2:n.1324T=
XM_011528010.2:c.1174T=	XP_011526312.1:p.Cys392=
XR_001753685.2:n.1291T=
XR_001753686.2:n.1291T=
NM_000527.5:c.1174T= MANE Select	NP_000518.1:p.Cys392=
NM_001195798.2:c.1174T=	NP_001182727.1:p.Cys392=
NM_001195799.2:c.1051T=	NP_001182728.1:p.Cys351=
NM_001195800.2:c.670T=	NP_001182729.1:p.Cys224=
NM_001195803.2:c.793T=	NP_001182732.1:p.Cys265=