Canonical Allele Identifier: CA2322771910

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113582T= , CM000681.2:g.11113582T=	GRCh38
NC_000019.9:g.11224258T= , CM000681.1:g.11224258T=	GRCh37
NC_000019.8:g.11085258T=	NCBI36
NG_009060.1:g.29202T= , LRG_274:g.29202T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1664T=	ENSP00000252444.6:p.Ile555=
ENST00000559340.2:c.1406T=	ENSP00000453696.2:p.Ile469=
ENST00000560467.2:c.1286T=	ENSP00000453513.2:p.Ile429=
ENST00000558518.6:c.1406T= MANE Select	ENSP00000454071.1:p.Ile469=
ENST00000252444.9:c.1660T=
ENST00000455727.6:c.902T=	ENSP00000397829.2:p.Ile301=
ENST00000535915.5:c.1283T=	ENSP00000440520.1:p.Ile428=
ENST00000545707.5:c.1025T=	ENSP00000437639.1:p.Ile342=
ENST00000557933.5:c.1406T=	ENSP00000453557.1:p.Ile469=
ENST00000558013.5:c.1406T=	ENSP00000453346.1:p.Ile469=
ENST00000558518.5:c.1406T=	ENSP00000454071.1:p.Ile469=
ENST00000559340.1:c.127T=
ENST00000560467.1:c.886T=
NM_000527.4:c.1406T= , LRG_274t1:c.1406T=	NP_000518.1:p.Ile469=
NM_001195798.1:c.1406T=	NP_001182727.1:p.Ile469=
NM_001195799.1:c.1283T=	NP_001182728.1:p.Ile428=
NM_001195800.1:c.902T=	NP_001182729.1:p.Ile301=
NM_001195803.1:c.1025T=	NP_001182732.1:p.Ile342=
XM_011528010.1:c.1406T=	XP_011526312.1:p.Ile469=
XM_011528011.1:c.1025T=	XP_011526313.1:p.Ile342=
XR_244074.2:n.1556T=
XM_011528010.2:c.1406T=	XP_011526312.1:p.Ile469=
XR_001753685.2:n.1523T=
XR_001753686.2:n.1523T=
NM_000527.5:c.1406T= MANE Select	NP_000518.1:p.Ile469=
NM_001195798.2:c.1406T=	NP_001182727.1:p.Ile469=
NM_001195799.2:c.1283T=	NP_001182728.1:p.Ile428=
NM_001195800.2:c.902T=	NP_001182729.1:p.Ile301=
NM_001195803.2:c.1025T=	NP_001182732.1:p.Ile342=