Canonical Allele Identifier: CA2322768210

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106665C= , CM000681.2:g.11106665C=	GRCh38
NC_000019.9:g.11217341C= , CM000681.1:g.11217341C=	GRCh37
NC_000019.8:g.11078341C=	NCBI36
NG_009060.1:g.22285C= , LRG_274:g.22285C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1053C=	ENSP00000252444.6:p.Ser351=
ENST00000559340.2:c.795C=	ENSP00000453696.2:p.Ser265=
ENST00000560467.2:c.795C=	ENSP00000453513.2:p.Ser265=
ENST00000558518.6:c.795C= MANE Select	ENSP00000454071.1:p.Ser265=
ENST00000252444.9:c.1049C=
ENST00000455727.6:c.314-727C=	ENSP00000397829.2:n.314-727C=
ENST00000535915.5:c.672C=	ENSP00000440520.1:p.Ser224=
ENST00000545707.5:c.414C=	ENSP00000437639.1:p.Ser138=
ENST00000557933.5:c.795C=	ENSP00000453557.1:p.Ser265=
ENST00000558013.5:c.795C=	ENSP00000453346.1:p.Ser265=
ENST00000558518.5:c.795C=	ENSP00000454071.1:p.Ser265=
ENST00000558528.1:n.310C=
ENST00000560467.1:c.395C=
NM_000527.4:c.795C= , LRG_274t1:c.795C=	NP_000518.1:p.Ser265=
NM_001195798.1:c.795C=	NP_001182727.1:p.Ser265=
NM_001195799.1:c.672C=	NP_001182728.1:p.Ser224=
NM_001195800.1:c.314-727C=	NP_001182729.1:n.314-727C=
NM_001195803.1:c.414C=	NP_001182732.1:p.Ser138=
XM_011528010.1:c.795C=	XP_011526312.1:p.Ser265=
XM_011528011.1:c.414C=	XP_011526313.1:p.Ser138=
XR_244074.2:n.945C=
XM_011528010.2:c.795C=	XP_011526312.1:p.Ser265=
XR_001753685.2:n.912C=
XR_001753686.2:n.912C=
NM_000527.5:c.795C= MANE Select	NP_000518.1:p.Ser265=
NM_001195798.2:c.795C=	NP_001182727.1:p.Ser265=
NM_001195799.2:c.672C=	NP_001182728.1:p.Ser224=
NM_001195800.2:c.314-727C=	NP_001182729.1:n.314-727C=
NM_001195803.2:c.414C=	NP_001182732.1:p.Ser138=