Canonical Allele Identifier: CA2322777219

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123261C= , CM000681.2:g.11123261C=	GRCh38
NC_000019.9:g.11233937C= , CM000681.1:g.11233937C=	GRCh37
NC_000019.8:g.11094937C=	NCBI36
NG_009060.1:g.38881C= , LRG_274:g.38881C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2486C=	ENSP00000252444.6:p.Thr829=
ENST00000559340.2:c.*297C=	ENSP00000453696.2:n.*297C=
ENST00000560467.2:c.2108C=	ENSP00000453513.2:p.Thr703=
ENST00000558518.6:c.2228C= MANE Select	ENSP00000454071.1:p.Thr743=
ENST00000252444.9:c.2482C=
ENST00000455727.6:c.1724C=	ENSP00000397829.2:p.Thr575=
ENST00000535915.5:c.2105C=	ENSP00000440520.1:p.Thr702=
ENST00000545707.5:c.1694C=	ENSP00000437639.1:p.Thr565=
ENST00000557933.5:c.2228C=	ENSP00000453557.1:p.Thr743=
ENST00000558013.5:c.2228C=	ENSP00000453346.1:p.Thr743=
ENST00000558518.5:c.2228C=	ENSP00000454071.1:p.Thr743=
NM_000527.4:c.2228C= , LRG_274t1:c.2228C=	NP_000518.1:p.Thr743=
NM_001195798.1:c.2228C=	NP_001182727.1:p.Thr743=
NM_001195799.1:c.2105C=	NP_001182728.1:p.Thr702=
NM_001195800.1:c.1724C=	NP_001182729.1:p.Thr575=
NM_001195803.1:c.1694C=	NP_001182732.1:p.Thr565=
XM_011528010.1:c.2228C=	XP_011526312.1:p.Thr743=
XM_011528011.1:c.1847C=	XP_011526313.1:p.Thr616=
XR_244074.2:n.2238C=
XM_011528010.2:c.2228C=	XP_011526312.1:p.Thr743=
XR_001753685.2:n.2562C=
XR_001753686.2:n.2205C=
NM_000527.5:c.2228C= MANE Select	NP_000518.1:p.Thr743=
NM_001195798.2:c.2228C=	NP_001182727.1:p.Thr743=
NM_001195799.2:c.2105C=	NP_001182728.1:p.Thr702=
NM_001195800.2:c.1724C=	NP_001182729.1:p.Thr575=
NM_001195803.2:c.1694C=	NP_001182732.1:p.Thr565=