Canonical Allele Identifier: CA2322775541

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120383T= , CM000681.2:g.11120383T=	GRCh38
NC_000019.9:g.11231059T= , CM000681.1:g.11231059T=	GRCh37
NC_000019.8:g.11092059T=	NCBI36
NG_009060.1:g.36003T= , LRG_274:g.36003T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2259T=	ENSP00000252444.6:p.Cys753=
ENST00000559340.2:c.*70T=	ENSP00000453696.2:n.*70T=
ENST00000560467.2:c.1881T=	ENSP00000453513.2:p.Cys627=
ENST00000558518.6:c.2001T= MANE Select	ENSP00000454071.1:p.Cys667=
ENST00000252444.9:c.2255T=
ENST00000455727.6:c.1497T=	ENSP00000397829.2:p.Cys499=
ENST00000535915.5:c.1878T=	ENSP00000440520.1:p.Cys626=
ENST00000545707.5:c.1606+150T=	ENSP00000437639.1:n.1606+150T=
ENST00000557933.5:c.2001T=	ENSP00000453557.1:p.Cys667=
ENST00000558013.5:c.2001T=	ENSP00000453346.1:p.Cys667=
ENST00000558518.5:c.2001T=	ENSP00000454071.1:p.Cys667=
ENST00000559340.1:c.582T=
NM_000527.4:c.2001T= , LRG_274t1:c.2001T=	NP_000518.1:p.Cys667=
NM_001195798.1:c.2001T=	NP_001182727.1:p.Cys667=
NM_001195799.1:c.1878T=	NP_001182728.1:p.Cys626=
NM_001195800.1:c.1497T=	NP_001182729.1:p.Cys499=
NM_001195803.1:c.1606+150T=	NP_001182732.1:n.1606+150T=
XM_011528010.1:c.2001T=	XP_011526312.1:p.Cys667=
XM_011528011.1:c.1620T=	XP_011526313.1:p.Cys540=
XR_244074.2:n.2011T=
XM_011528010.2:c.2001T=	XP_011526312.1:p.Cys667=
XR_001753685.2:n.2118T=
XR_001753686.2:n.1978T=
NM_000527.5:c.2001T= MANE Select	NP_000518.1:p.Cys667=
NM_001195798.2:c.2001T=	NP_001182727.1:p.Cys667=
NM_001195799.2:c.1878T=	NP_001182728.1:p.Cys626=
NM_001195800.2:c.1497T=	NP_001182729.1:p.Cys499=
NM_001195803.2:c.1606+150T=	NP_001182732.1:n.1606+150T=