Canonical Allele Identifier: CA2322777172

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123194A= , CM000681.2:g.11123194A=	GRCh38
NC_000019.9:g.11233870A= , CM000681.1:g.11233870A=	GRCh37
NC_000019.8:g.11094870A=	NCBI36
NG_009060.1:g.38814A= , LRG_274:g.38814A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2419A=	ENSP00000252444.6:p.Thr807=
ENST00000559340.2:c.*230A=	ENSP00000453696.2:n.*230A=
ENST00000560467.2:c.2041A=	ENSP00000453513.2:p.Thr681=
ENST00000558518.6:c.2161A= MANE Select	ENSP00000454071.1:p.Thr721=
ENST00000252444.9:c.2415A=
ENST00000455727.6:c.1657A=	ENSP00000397829.2:p.Thr553=
ENST00000535915.5:c.2038A=	ENSP00000440520.1:p.Thr680=
ENST00000545707.5:c.1627A=	ENSP00000437639.1:p.Thr543=
ENST00000557933.5:c.2161A=	ENSP00000453557.1:p.Thr721=
ENST00000558013.5:c.2161A=	ENSP00000453346.1:p.Thr721=
ENST00000558518.5:c.2161A=	ENSP00000454071.1:p.Thr721=
NM_000527.4:c.2161A= , LRG_274t1:c.2161A=	NP_000518.1:p.Thr721=
NM_001195798.1:c.2161A=	NP_001182727.1:p.Thr721=
NM_001195799.1:c.2038A=	NP_001182728.1:p.Thr680=
NM_001195800.1:c.1657A=	NP_001182729.1:p.Thr553=
NM_001195803.1:c.1627A=	NP_001182732.1:p.Thr543=
XM_011528010.1:c.2161A=	XP_011526312.1:p.Thr721=
XM_011528011.1:c.1780A=	XP_011526313.1:p.Thr594=
XR_244074.2:n.2171A=
XM_011528010.2:c.2161A=	XP_011526312.1:p.Thr721=
XR_001753685.2:n.2495A=
XR_001753686.2:n.2138A=
NM_000527.5:c.2161A= MANE Select	NP_000518.1:p.Thr721=
NM_001195798.2:c.2161A=	NP_001182727.1:p.Thr721=
NM_001195799.2:c.2038A=	NP_001182728.1:p.Thr680=
NM_001195800.2:c.1657A=	NP_001182729.1:p.Thr553=
NM_001195803.2:c.1627A=	NP_001182732.1:p.Thr543=