Canonical Allele Identifier: CA2322775374

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120135G= , CM000681.2:g.11120135G=	GRCh38
NC_000019.9:g.11230811G= , CM000681.1:g.11230811G=	GRCh37
NC_000019.8:g.11091811G=	NCBI36
NG_009060.1:g.35755G= , LRG_274:g.35755G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2147G=	ENSP00000252444.6:p.Ser716=
ENST00000559340.2:c.1749G=	ENSP00000453696.2:p.Gln583=
ENST00000560467.2:c.1769G=	ENSP00000453513.2:p.Ser590=
ENST00000558518.6:c.1889G= MANE Select	ENSP00000454071.1:p.Ser630=
ENST00000252444.9:c.2143G=
ENST00000455727.6:c.1385G=	ENSP00000397829.2:p.Ser462=
ENST00000535915.5:c.1766G=	ENSP00000440520.1:p.Ser589=
ENST00000545707.5:c.1508G=	ENSP00000437639.1:p.Ser503=
ENST00000557933.5:c.1889G=	ENSP00000453557.1:p.Ser630=
ENST00000558013.5:c.1889G=	ENSP00000453346.1:p.Ser630=
ENST00000558518.5:c.1889G=	ENSP00000454071.1:p.Ser630=
ENST00000559340.1:c.470G=
NM_000527.4:c.1889G= , LRG_274t1:c.1889G=	NP_000518.1:p.Ser630=
NM_001195798.1:c.1889G=	NP_001182727.1:p.Ser630=
NM_001195799.1:c.1766G=	NP_001182728.1:p.Ser589=
NM_001195800.1:c.1385G=	NP_001182729.1:p.Ser462=
NM_001195803.1:c.1508G=	NP_001182732.1:p.Ser503=
XM_011528010.1:c.1889G=	XP_011526312.1:p.Ser630=
XM_011528011.1:c.1508G=	XP_011526313.1:p.Ser503=
XR_244074.2:n.1899G=
XM_011528010.2:c.1889G=	XP_011526312.1:p.Ser630=
XR_001753685.2:n.2006G=
XR_001753686.2:n.1866G=
NM_000527.5:c.1889G= MANE Select	NP_000518.1:p.Ser630=
NM_001195798.2:c.1889G=	NP_001182727.1:p.Ser630=
NM_001195799.2:c.1766G=	NP_001182728.1:p.Ser589=
NM_001195800.2:c.1385G=	NP_001182729.1:p.Ser462=
NM_001195803.2:c.1508G=	NP_001182732.1:p.Ser503=