Canonical Allele Identifier: CA2322775608

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120449C= , CM000681.2:g.11120449C=	GRCh38
NC_000019.9:g.11231125C= , CM000681.1:g.11231125C=	GRCh37
NC_000019.8:g.11092125C=	NCBI36
NG_009060.1:g.36069C= , LRG_274:g.36069C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2325C=	ENSP00000252444.6:p.Pro775=
ENST00000559340.2:c.*136C=	ENSP00000453696.2:n.*136C=
ENST00000560467.2:c.1947C=	ENSP00000453513.2:p.Pro649=
ENST00000558518.6:c.2067C= MANE Select	ENSP00000454071.1:p.Pro689=
ENST00000252444.9:c.2321C=
ENST00000455727.6:c.1563C=	ENSP00000397829.2:p.Pro521=
ENST00000535915.5:c.1944C=	ENSP00000440520.1:p.Pro648=
ENST00000545707.5:c.1606+216C=	ENSP00000437639.1:n.1606+216C=
ENST00000557933.5:c.2067C=	ENSP00000453557.1:p.Pro689=
ENST00000558013.5:c.2067C=	ENSP00000453346.1:p.Pro689=
ENST00000558518.5:c.2067C=	ENSP00000454071.1:p.Pro689=
NM_000527.4:c.2067C= , LRG_274t1:c.2067C=	NP_000518.1:p.Pro689=
NM_001195798.1:c.2067C=	NP_001182727.1:p.Pro689=
NM_001195799.1:c.1944C=	NP_001182728.1:p.Pro648=
NM_001195800.1:c.1563C=	NP_001182729.1:p.Pro521=
NM_001195803.1:c.1606+216C=	NP_001182732.1:n.1606+216C=
XM_011528010.1:c.2067C=	XP_011526312.1:p.Pro689=
XM_011528011.1:c.1686C=	XP_011526313.1:p.Pro562=
XR_244074.2:n.2077C=
XM_011528010.2:c.2067C=	XP_011526312.1:p.Pro689=
XR_001753685.2:n.2184C=
XR_001753686.2:n.2044C=
NM_000527.5:c.2067C= MANE Select	NP_000518.1:p.Pro689=
NM_001195798.2:c.2067C=	NP_001182727.1:p.Pro689=
NM_001195799.2:c.1944C=	NP_001182728.1:p.Pro648=
NM_001195800.2:c.1563C=	NP_001182729.1:p.Pro521=
NM_001195803.2:c.1606+216C=	NP_001182732.1:n.1606+216C=