Canonical Allele Identifier: CA2322775400

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120175T= , CM000681.2:g.11120175T=	GRCh38
NC_000019.9:g.11230851T= , CM000681.1:g.11230851T=	GRCh37
NC_000019.8:g.11091851T=	NCBI36
NG_009060.1:g.35795T= , LRG_274:g.35795T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2187T=	ENSP00000252444.6:p.Ala729=
ENST00000559340.2:c.1789T=	ENSP00000453696.2:p.Ter597=
ENST00000560467.2:c.1809T=	ENSP00000453513.2:p.Ala603=
ENST00000558518.6:c.1929T= MANE Select	ENSP00000454071.1:p.Ala643=
ENST00000252444.9:c.2183T=
ENST00000455727.6:c.1425T=	ENSP00000397829.2:p.Ala475=
ENST00000535915.5:c.1806T=	ENSP00000440520.1:p.Ala602=
ENST00000545707.5:c.1548T=	ENSP00000437639.1:p.Ala516=
ENST00000557933.5:c.1929T=	ENSP00000453557.1:p.Ala643=
ENST00000558013.5:c.1929T=	ENSP00000453346.1:p.Ala643=
ENST00000558518.5:c.1929T=	ENSP00000454071.1:p.Ala643=
ENST00000559340.1:c.510T=
NM_000527.4:c.1929T= , LRG_274t1:c.1929T=	NP_000518.1:p.Ala643=
NM_001195798.1:c.1929T=	NP_001182727.1:p.Ala643=
NM_001195799.1:c.1806T=	NP_001182728.1:p.Ala602=
NM_001195800.1:c.1425T=	NP_001182729.1:p.Ala475=
NM_001195803.1:c.1548T=	NP_001182732.1:p.Ala516=
XM_011528010.1:c.1929T=	XP_011526312.1:p.Ala643=
XM_011528011.1:c.1548T=	XP_011526313.1:p.Ala516=
XR_244074.2:n.1939T=
XM_011528010.2:c.1929T=	XP_011526312.1:p.Ala643=
XR_001753685.2:n.2046T=
XR_001753686.2:n.1906T=
NM_000527.5:c.1929T= MANE Select	NP_000518.1:p.Ala643=
NM_001195798.2:c.1929T=	NP_001182727.1:p.Ala643=
NM_001195799.2:c.1806T=	NP_001182728.1:p.Ala602=
NM_001195800.2:c.1425T=	NP_001182729.1:p.Ala475=
NM_001195803.2:c.1548T=	NP_001182732.1:p.Ala516=