Canonical Allele Identifier: CA2322775613

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120455G= , CM000681.2:g.11120455G=	GRCh38
NC_000019.9:g.11231131G= , CM000681.1:g.11231131G=	GRCh37
NC_000019.8:g.11092131G=	NCBI36
NG_009060.1:g.36075G= , LRG_274:g.36075G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2331G=	ENSP00000252444.6:p.Ser777=
ENST00000559340.2:c.*142G=	ENSP00000453696.2:n.*142G=
ENST00000560467.2:c.1953G=	ENSP00000453513.2:p.Ser651=
ENST00000558518.6:c.2073G= MANE Select	ENSP00000454071.1:p.Ser691=
ENST00000252444.9:c.2327G=
ENST00000455727.6:c.1569G=	ENSP00000397829.2:p.Ser523=
ENST00000535915.5:c.1950G=	ENSP00000440520.1:p.Ser650=
ENST00000545707.5:c.1606+222G=	ENSP00000437639.1:n.1606+222G=
ENST00000557933.5:c.2073G=	ENSP00000453557.1:p.Ser691=
ENST00000558013.5:c.2073G=	ENSP00000453346.1:p.Ser691=
ENST00000558518.5:c.2073G=	ENSP00000454071.1:p.Ser691=
NM_000527.4:c.2073G= , LRG_274t1:c.2073G=	NP_000518.1:p.Ser691=
NM_001195798.1:c.2073G=	NP_001182727.1:p.Ser691=
NM_001195799.1:c.1950G=	NP_001182728.1:p.Ser650=
NM_001195800.1:c.1569G=	NP_001182729.1:p.Ser523=
NM_001195803.1:c.1606+222G=	NP_001182732.1:n.1606+222G=
XM_011528010.1:c.2073G=	XP_011526312.1:p.Ser691=
XM_011528011.1:c.1692G=	XP_011526313.1:p.Ser564=
XR_244074.2:n.2083G=
XM_011528010.2:c.2073G=	XP_011526312.1:p.Ser691=
XR_001753685.2:n.2190G=
XR_001753686.2:n.2050G=
NM_000527.5:c.2073G= MANE Select	NP_000518.1:p.Ser691=
NM_001195798.2:c.2073G=	NP_001182727.1:p.Ser691=
NM_001195799.2:c.1950G=	NP_001182728.1:p.Ser650=
NM_001195800.2:c.1569G=	NP_001182729.1:p.Ser523=
NM_001195803.2:c.1606+222G=	NP_001182732.1:n.1606+222G=