Canonical Allele Identifier: CA2322770713

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111538A= , CM000681.2:g.11111538A=	GRCh38
NC_000019.9:g.11222214A= , CM000681.1:g.11222214A=	GRCh37
NC_000019.8:g.11083214A=	NCBI36
NG_009060.1:g.27158A= , LRG_274:g.27158A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1343A=	ENSP00000252444.6:p.Asp448=
ENST00000559340.2:c.1085A=	ENSP00000453696.2:p.Asp362=
ENST00000560467.2:c.965A=	ENSP00000453513.2:p.Asp322=
ENST00000558518.6:c.1085A= MANE Select	ENSP00000454071.1:p.Asp362=
ENST00000252444.9:c.1339A=
ENST00000455727.6:c.581A=	ENSP00000397829.2:p.Asp194=
ENST00000535915.5:c.962A=	ENSP00000440520.1:p.Asp321=
ENST00000545707.5:c.704A=	ENSP00000437639.1:p.Asp235=
ENST00000557933.5:c.1085A=	ENSP00000453557.1:p.Asp362=
ENST00000558013.5:c.1085A=	ENSP00000453346.1:p.Asp362=
ENST00000558518.5:c.1085A=	ENSP00000454071.1:p.Asp362=
ENST00000560173.1:n.84A=
ENST00000560467.1:c.565A=
NM_000527.4:c.1085A= , LRG_274t1:c.1085A=	NP_000518.1:p.Asp362=
NM_001195798.1:c.1085A=	NP_001182727.1:p.Asp362=
NM_001195799.1:c.962A=	NP_001182728.1:p.Asp321=
NM_001195800.1:c.581A=	NP_001182729.1:p.Asp194=
NM_001195803.1:c.704A=	NP_001182732.1:p.Asp235=
XM_011528010.1:c.1085A=	XP_011526312.1:p.Asp362=
XM_011528011.1:c.704A=	XP_011526313.1:p.Asp235=
XR_244074.2:n.1235A=
XM_011528010.2:c.1085A=	XP_011526312.1:p.Asp362=
XR_001753685.2:n.1202A=
XR_001753686.2:n.1202A=
NM_000527.5:c.1085A= MANE Select	NP_000518.1:p.Asp362=
NM_001195798.2:c.1085A=	NP_001182727.1:p.Asp362=
NM_001195799.2:c.962A=	NP_001182728.1:p.Asp321=
NM_001195800.2:c.581A=	NP_001182729.1:p.Asp194=
NM_001195803.2:c.704A=	NP_001182732.1:p.Asp235=