Canonical Allele Identifier: CA2322775439

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120221A= , CM000681.2:g.11120221A=	GRCh38
NC_000019.9:g.11230897A= , CM000681.1:g.11230897A=	GRCh37
NC_000019.8:g.11091897A=	NCBI36
NG_009060.1:g.35841A= , LRG_274:g.35841A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2233A=	ENSP00000252444.6:p.Thr745=
ENST00000559340.2:c.*44A=	ENSP00000453696.2:n.*44A=
ENST00000560467.2:c.1855A=	ENSP00000453513.2:p.Thr619=
ENST00000558518.6:c.1975A= MANE Select	ENSP00000454071.1:p.Thr659=
ENST00000252444.9:c.2229A=
ENST00000455727.6:c.1471A=	ENSP00000397829.2:p.Thr491=
ENST00000535915.5:c.1852A=	ENSP00000440520.1:p.Thr618=
ENST00000545707.5:c.1594A=	ENSP00000437639.1:p.Thr532=
ENST00000557933.5:c.1975A=	ENSP00000453557.1:p.Thr659=
ENST00000558013.5:c.1975A=	ENSP00000453346.1:p.Thr659=
ENST00000558518.5:c.1975A=	ENSP00000454071.1:p.Thr659=
ENST00000559340.1:c.556A=
NM_000527.4:c.1975A= , LRG_274t1:c.1975A=	NP_000518.1:p.Thr659=
NM_001195798.1:c.1975A=	NP_001182727.1:p.Thr659=
NM_001195799.1:c.1852A=	NP_001182728.1:p.Thr618=
NM_001195800.1:c.1471A=	NP_001182729.1:p.Thr491=
NM_001195803.1:c.1594A=	NP_001182732.1:p.Thr532=
XM_011528010.1:c.1975A=	XP_011526312.1:p.Thr659=
XM_011528011.1:c.1594A=	XP_011526313.1:p.Thr532=
XR_244074.2:n.1985A=
XM_011528010.2:c.1975A=	XP_011526312.1:p.Thr659=
XR_001753685.2:n.2092A=
XR_001753686.2:n.1952A=
NM_000527.5:c.1975A= MANE Select	NP_000518.1:p.Thr659=
NM_001195798.2:c.1975A=	NP_001182727.1:p.Thr659=
NM_001195799.2:c.1852A=	NP_001182728.1:p.Thr618=
NM_001195800.2:c.1471A=	NP_001182729.1:p.Thr491=
NM_001195803.2:c.1594A=	NP_001182732.1:p.Thr532=