Canonical Allele Identifier: CA2322760849

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11091609C= , CM000681.2:g.11091609C=	GRCh38
NC_000019.9:g.11202285C= , CM000681.1:g.11202285C=	GRCh37
NC_000019.8:g.11063285C=	NCBI36
NG_009060.1:g.7229C= , LRG_274:g.7229C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.325+690C=	ENSP00000252444.6:n.325+690C=
ENST00000559340.2:c.67+1994C=	ENSP00000453696.2:n.67+1994C=
ENST00000560467.2:c.67+1994C=	ENSP00000453513.2:n.67+1994C=
ENST00000558518.6:c.67+1994C= MANE Select	ENSP00000454071.1:n.67+1994C=
ENST00000252444.9:c.321+690C=
ENST00000455727.6:c.67+1994C=	ENSP00000397829.2:n.67+1994C=
ENST00000535915.5:c.67+1994C=	ENSP00000440520.1:n.67+1994C=
ENST00000545707.5:c.67+1994C=	ENSP00000437639.1:n.67+1994C=
ENST00000557933.5:c.67+1994C=	ENSP00000453557.1:n.67+1994C=
ENST00000557958.1:n.153+1994C=
ENST00000558013.5:c.67+1994C=	ENSP00000453346.1:n.67+1994C=
ENST00000558518.5:c.67+1994C=	ENSP00000454071.1:n.67+1994C=
ENST00000560502.5:n.153+1994C=
NM_000527.4:c.67+1994C= , LRG_274t1:c.67+1994C=	NP_000518.1:n.67+1994C=
NM_001195798.1:c.67+1994C=	NP_001182727.1:n.67+1994C=
NM_001195799.1:c.67+1994C=	NP_001182728.1:n.67+1994C=
NM_001195800.1:c.67+1994C=	NP_001182729.1:n.67+1994C=
NM_001195803.1:c.67+1994C=	NP_001182732.1:n.67+1994C=
XM_011528010.1:c.67+1994C=	XP_011526312.1:n.67+1994C=
XM_011528011.1:c.67+1994C=	XP_011526313.1:n.67+1994C=
XR_244074.2:n.217+1994C=
XM_011528010.2:c.67+1994C=	XP_011526312.1:n.67+1994C=
XR_001753685.2:n.184+1994C=
XR_001753686.2:n.184+1994C=
NM_000527.5:c.67+1994C= MANE Select	NP_000518.1:n.67+1994C=
NM_001195798.2:c.67+1994C=	NP_001182727.1:n.67+1994C=
NM_001195799.2:c.67+1994C=	NP_001182728.1:n.67+1994C=
NM_001195800.2:c.67+1994C=	NP_001182729.1:n.67+1994C=
NM_001195803.2:c.67+1994C=	NP_001182732.1:n.67+1994C=