Canonical Allele Identifier: CA2322768576

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107411C= , CM000681.2:g.11107411C=	GRCh38
NC_000019.9:g.11218087C= , CM000681.1:g.11218087C=	GRCh37
NC_000019.8:g.11079087C=	NCBI36
NG_009060.1:g.23031C= , LRG_274:g.23031C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1095C=	ENSP00000252444.6:p.Pro365=
ENST00000559340.2:c.837C=	ENSP00000453696.2:p.Pro279=
ENST00000560467.2:c.837C=	ENSP00000453513.2:p.Pro279=
ENST00000558518.6:c.837C= MANE Select	ENSP00000454071.1:p.Pro279=
ENST00000252444.9:c.1091C=
ENST00000455727.6:c.333C=	ENSP00000397829.2:p.Pro111=
ENST00000535915.5:c.714C=	ENSP00000440520.1:p.Pro238=
ENST00000545707.5:c.456C=	ENSP00000437639.1:p.Pro152=
ENST00000557933.5:c.837C=	ENSP00000453557.1:p.Pro279=
ENST00000558013.5:c.837C=	ENSP00000453346.1:p.Pro279=
ENST00000558518.5:c.837C=	ENSP00000454071.1:p.Pro279=
ENST00000558528.1:n.352C=
ENST00000560467.1:c.437C=
NM_000527.4:c.837C= , LRG_274t1:c.837C=	NP_000518.1:p.Pro279=
NM_001195798.1:c.837C=	NP_001182727.1:p.Pro279=
NM_001195799.1:c.714C=	NP_001182728.1:p.Pro238=
NM_001195800.1:c.333C=	NP_001182729.1:p.Pro111=
NM_001195803.1:c.456C=	NP_001182732.1:p.Pro152=
XM_011528010.1:c.837C=	XP_011526312.1:p.Pro279=
XM_011528011.1:c.456C=	XP_011526313.1:p.Pro152=
XR_244074.2:n.987C=
XM_011528010.2:c.837C=	XP_011526312.1:p.Pro279=
XR_001753685.2:n.954C=
XR_001753686.2:n.954C=
NM_000527.5:c.837C= MANE Select	NP_000518.1:p.Pro279=
NM_001195798.2:c.837C=	NP_001182727.1:p.Pro279=
NM_001195799.2:c.714C=	NP_001182728.1:p.Pro238=
NM_001195800.2:c.333C=	NP_001182729.1:p.Pro111=
NM_001195803.2:c.456C=	NP_001182732.1:p.Pro152=