Canonical Allele Identifier: CA2322777180

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123206T= , CM000681.2:g.11123206T=	GRCh38
NC_000019.9:g.11233882T= , CM000681.1:g.11233882T=	GRCh37
NC_000019.8:g.11094882T=	NCBI36
NG_009060.1:g.38826T= , LRG_274:g.38826T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2431T=	ENSP00000252444.6:p.Ser811=
ENST00000559340.2:c.*242T=	ENSP00000453696.2:n.*242T=
ENST00000560467.2:c.2053T=	ENSP00000453513.2:p.Ser685=
ENST00000558518.6:c.2173T= MANE Select	ENSP00000454071.1:p.Ser725=
ENST00000252444.9:c.2427T=
ENST00000455727.6:c.1669T=	ENSP00000397829.2:p.Ser557=
ENST00000535915.5:c.2050T=	ENSP00000440520.1:p.Ser684=
ENST00000545707.5:c.1639T=	ENSP00000437639.1:p.Ser547=
ENST00000557933.5:c.2173T=	ENSP00000453557.1:p.Ser725=
ENST00000558013.5:c.2173T=	ENSP00000453346.1:p.Ser725=
ENST00000558518.5:c.2173T=	ENSP00000454071.1:p.Ser725=
NM_000527.4:c.2173T= , LRG_274t1:c.2173T=	NP_000518.1:p.Ser725=
NM_001195798.1:c.2173T=	NP_001182727.1:p.Ser725=
NM_001195799.1:c.2050T=	NP_001182728.1:p.Ser684=
NM_001195800.1:c.1669T=	NP_001182729.1:p.Ser557=
NM_001195803.1:c.1639T=	NP_001182732.1:p.Ser547=
XM_011528010.1:c.2173T=	XP_011526312.1:p.Ser725=
XM_011528011.1:c.1792T=	XP_011526313.1:p.Ser598=
XR_244074.2:n.2183T=
XM_011528010.2:c.2173T=	XP_011526312.1:p.Ser725=
XR_001753685.2:n.2507T=
XR_001753686.2:n.2150T=
NM_000527.5:c.2173T= MANE Select	NP_000518.1:p.Ser725=
NM_001195798.2:c.2173T=	NP_001182727.1:p.Ser725=
NM_001195799.2:c.2050T=	NP_001182728.1:p.Ser684=
NM_001195800.2:c.1669T=	NP_001182729.1:p.Ser557=
NM_001195803.2:c.1639T=	NP_001182732.1:p.Ser547=