Canonical Allele Identifier: CA2322775373

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120134A= , CM000681.2:g.11120134A=	GRCh38
NC_000019.9:g.11230810A= , CM000681.1:g.11230810A=	GRCh37
NC_000019.8:g.11091810A=	NCBI36
NG_009060.1:g.35754A= , LRG_274:g.35754A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2146A=	ENSP00000252444.6:p.Ser716=
ENST00000559340.2:c.1748A=	ENSP00000453696.2:p.Gln583=
ENST00000560467.2:c.1768A=	ENSP00000453513.2:p.Ser590=
ENST00000558518.6:c.1888A= MANE Select	ENSP00000454071.1:p.Ser630=
ENST00000252444.9:c.2142A=
ENST00000455727.6:c.1384A=	ENSP00000397829.2:p.Ser462=
ENST00000535915.5:c.1765A=	ENSP00000440520.1:p.Ser589=
ENST00000545707.5:c.1507A=	ENSP00000437639.1:p.Ser503=
ENST00000557933.5:c.1888A=	ENSP00000453557.1:p.Ser630=
ENST00000558013.5:c.1888A=	ENSP00000453346.1:p.Ser630=
ENST00000558518.5:c.1888A=	ENSP00000454071.1:p.Ser630=
ENST00000559340.1:c.469A=
NM_000527.4:c.1888A= , LRG_274t1:c.1888A=	NP_000518.1:p.Ser630=
NM_001195798.1:c.1888A=	NP_001182727.1:p.Ser630=
NM_001195799.1:c.1765A=	NP_001182728.1:p.Ser589=
NM_001195800.1:c.1384A=	NP_001182729.1:p.Ser462=
NM_001195803.1:c.1507A=	NP_001182732.1:p.Ser503=
XM_011528010.1:c.1888A=	XP_011526312.1:p.Ser630=
XM_011528011.1:c.1507A=	XP_011526313.1:p.Ser503=
XR_244074.2:n.1898A=
XM_011528010.2:c.1888A=	XP_011526312.1:p.Ser630=
XR_001753685.2:n.2005A=
XR_001753686.2:n.1865A=
NM_000527.5:c.1888A= MANE Select	NP_000518.1:p.Ser630=
NM_001195798.2:c.1888A=	NP_001182727.1:p.Ser630=
NM_001195799.2:c.1765A=	NP_001182728.1:p.Ser589=
NM_001195800.2:c.1384A=	NP_001182729.1:p.Ser462=
NM_001195803.2:c.1507A=	NP_001182732.1:p.Ser503=