Canonical Allele Identifier: CA2322771814

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113447C= , CM000681.2:g.11113447C=	GRCh38
NC_000019.9:g.11224123C= , CM000681.1:g.11224123C=	GRCh37
NC_000019.8:g.11085123C=	NCBI36
NG_009060.1:g.29067C= , LRG_274:g.29067C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1614C=	ENSP00000252444.6:p.Cys538=
ENST00000559340.2:c.1356C=	ENSP00000453696.2:p.Cys452=
ENST00000560467.2:c.1236C=	ENSP00000453513.2:p.Cys412=
ENST00000558518.6:c.1356C= MANE Select	ENSP00000454071.1:p.Cys452=
ENST00000252444.9:c.1610C=
ENST00000455727.6:c.852C=	ENSP00000397829.2:p.Cys284=
ENST00000535915.5:c.1233C=	ENSP00000440520.1:p.Cys411=
ENST00000545707.5:c.975C=	ENSP00000437639.1:p.Cys325=
ENST00000557933.5:c.1356C=	ENSP00000453557.1:p.Cys452=
ENST00000558013.5:c.1356C=	ENSP00000453346.1:p.Cys452=
ENST00000558518.5:c.1356C=	ENSP00000454071.1:p.Cys452=
ENST00000559340.1:c.77C=
ENST00000560173.1:n.355C=
ENST00000560467.1:c.836C=
NM_000527.4:c.1356C= , LRG_274t1:c.1356C=	NP_000518.1:p.Cys452=
NM_001195798.1:c.1356C=	NP_001182727.1:p.Cys452=
NM_001195799.1:c.1233C=	NP_001182728.1:p.Cys411=
NM_001195800.1:c.852C=	NP_001182729.1:p.Cys284=
NM_001195803.1:c.975C=	NP_001182732.1:p.Cys325=
XM_011528010.1:c.1356C=	XP_011526312.1:p.Cys452=
XM_011528011.1:c.975C=	XP_011526313.1:p.Cys325=
XR_244074.2:n.1506C=
XM_011528010.2:c.1356C=	XP_011526312.1:p.Cys452=
XR_001753685.2:n.1473C=
XR_001753686.2:n.1473C=
NM_000527.5:c.1356C= MANE Select	NP_000518.1:p.Cys452=
NM_001195798.2:c.1356C=	NP_001182727.1:p.Cys452=
NM_001195799.2:c.1233C=	NP_001182728.1:p.Cys411=
NM_001195800.2:c.852C=	NP_001182729.1:p.Cys284=
NM_001195803.2:c.975C=	NP_001182732.1:p.Cys325=