Canonical Allele Identifier: CA2322777273

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123334G= , CM000681.2:g.11123334G=	GRCh38
NC_000019.9:g.11234010G= , CM000681.1:g.11234010G=	GRCh37
NC_000019.8:g.11095010G=	NCBI36
NG_009060.1:g.38954G= , LRG_274:g.38954G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2559G=	ENSP00000252444.6:p.Met853=
ENST00000559340.2:c.*370G=	ENSP00000453696.2:n.*370G=
ENST00000560467.2:c.2181G=	ENSP00000453513.2:p.Met727=
ENST00000558518.6:c.2301G= MANE Select	ENSP00000454071.1:p.Met767=
ENST00000252444.9:c.2555G=
ENST00000455727.6:c.1797G=	ENSP00000397829.2:p.Met599=
ENST00000535915.5:c.2178G=	ENSP00000440520.1:p.Met726=
ENST00000545707.5:c.1767G=	ENSP00000437639.1:p.Met589=
ENST00000557933.5:c.2301G=	ENSP00000453557.1:p.Met767=
ENST00000558013.5:c.2301G=	ENSP00000453346.1:p.Met767=
ENST00000558518.5:c.2301G=	ENSP00000454071.1:p.Met767=
NM_000527.4:c.2301G= , LRG_274t1:c.2301G=	NP_000518.1:p.Met767=
NM_001195798.1:c.2301G=	NP_001182727.1:p.Met767=
NM_001195799.1:c.2178G=	NP_001182728.1:p.Met726=
NM_001195800.1:c.1797G=	NP_001182729.1:p.Met599=
NM_001195803.1:c.1767G=	NP_001182732.1:p.Met589=
XM_011528010.1:c.2301G=	XP_011526312.1:p.Met767=
XM_011528011.1:c.1920G=	XP_011526313.1:p.Met640=
XR_244074.2:n.2311G=
XM_011528010.2:c.2301G=	XP_011526312.1:p.Met767=
XR_001753685.2:n.2635G=
XR_001753686.2:n.2278G=
NM_000527.5:c.2301G= MANE Select	NP_000518.1:p.Met767=
NM_001195798.2:c.2301G=	NP_001182727.1:p.Met767=
NM_001195799.2:c.2178G=	NP_001182728.1:p.Met726=
NM_001195800.2:c.1797G=	NP_001182729.1:p.Met599=
NM_001195803.2:c.1767G=	NP_001182732.1:p.Met589=