Canonical Allele Identifier: CA2322771702

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113301A= , CM000681.2:g.11113301A=	GRCh38
NC_000019.9:g.11223977A= , CM000681.1:g.11223977A=	GRCh37
NC_000019.8:g.11084977A=	NCBI36
NG_009060.1:g.28921A= , LRG_274:g.28921A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1468A=	ENSP00000252444.6:p.Thr490=
ENST00000559340.2:c.1210A=	ENSP00000453696.2:p.Thr404=
ENST00000560467.2:c.1090A=	ENSP00000453513.2:p.Thr364=
ENST00000558518.6:c.1210A= MANE Select	ENSP00000454071.1:p.Thr404=
ENST00000252444.9:c.1464A=
ENST00000455727.6:c.706A=	ENSP00000397829.2:p.Thr236=
ENST00000535915.5:c.1087A=	ENSP00000440520.1:p.Thr363=
ENST00000545707.5:c.829A=	ENSP00000437639.1:p.Thr277=
ENST00000557933.5:c.1210A=	ENSP00000453557.1:p.Thr404=
ENST00000558013.5:c.1210A=	ENSP00000453346.1:p.Thr404=
ENST00000558518.5:c.1210A=	ENSP00000454071.1:p.Thr404=
ENST00000560173.1:n.209A=
ENST00000560467.1:c.690A=
NM_000527.4:c.1210A= , LRG_274t1:c.1210A=	NP_000518.1:p.Thr404=
NM_001195798.1:c.1210A=	NP_001182727.1:p.Thr404=
NM_001195799.1:c.1087A=	NP_001182728.1:p.Thr363=
NM_001195800.1:c.706A=	NP_001182729.1:p.Thr236=
NM_001195803.1:c.829A=	NP_001182732.1:p.Thr277=
XM_011528010.1:c.1210A=	XP_011526312.1:p.Thr404=
XM_011528011.1:c.829A=	XP_011526313.1:p.Thr277=
XR_244074.2:n.1360A=
XM_011528010.2:c.1210A=	XP_011526312.1:p.Thr404=
XR_001753685.2:n.1327A=
XR_001753686.2:n.1327A=
NM_000527.5:c.1210A= MANE Select	NP_000518.1:p.Thr404=
NM_001195798.2:c.1210A=	NP_001182727.1:p.Thr404=
NM_001195799.2:c.1087A=	NP_001182728.1:p.Thr363=
NM_001195800.2:c.706A=	NP_001182729.1:p.Thr236=
NM_001195803.2:c.829A=	NP_001182732.1:p.Thr277=