Canonical Allele Identifier: CA2322775619

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120462T= , CM000681.2:g.11120462T=	GRCh38
NC_000019.9:g.11231138T= , CM000681.1:g.11231138T=	GRCh37
NC_000019.8:g.11092138T=	NCBI36
NG_009060.1:g.36082T= , LRG_274:g.36082T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2338T=	ENSP00000252444.6:p.Phe780=
ENST00000559340.2:c.*149T=	ENSP00000453696.2:n.*149T=
ENST00000560467.2:c.1960T=	ENSP00000453513.2:p.Phe654=
ENST00000558518.6:c.2080T= MANE Select	ENSP00000454071.1:p.Phe694=
ENST00000252444.9:c.2334T=
ENST00000455727.6:c.1576T=	ENSP00000397829.2:p.Phe526=
ENST00000535915.5:c.1957T=	ENSP00000440520.1:p.Phe653=
ENST00000545707.5:c.1606+229T=	ENSP00000437639.1:n.1606+229T=
ENST00000557933.5:c.2080T=	ENSP00000453557.1:p.Phe694=
ENST00000558013.5:c.2080T=	ENSP00000453346.1:p.Phe694=
ENST00000558518.5:c.2080T=	ENSP00000454071.1:p.Phe694=
NM_000527.4:c.2080T= , LRG_274t1:c.2080T=	NP_000518.1:p.Phe694=
NM_001195798.1:c.2080T=	NP_001182727.1:p.Phe694=
NM_001195799.1:c.1957T=	NP_001182728.1:p.Phe653=
NM_001195800.1:c.1576T=	NP_001182729.1:p.Phe526=
NM_001195803.1:c.1606+229T=	NP_001182732.1:n.1606+229T=
XM_011528010.1:c.2080T=	XP_011526312.1:p.Phe694=
XM_011528011.1:c.1699T=	XP_011526313.1:p.Phe567=
XR_244074.2:n.2090T=
XM_011528010.2:c.2080T=	XP_011526312.1:p.Phe694=
XR_001753685.2:n.2197T=
XR_001753686.2:n.2057T=
NM_000527.5:c.2080T= MANE Select	NP_000518.1:p.Phe694=
NM_001195798.2:c.2080T=	NP_001182727.1:p.Phe694=
NM_001195799.2:c.1957T=	NP_001182728.1:p.Phe653=
NM_001195800.2:c.1576T=	NP_001182729.1:p.Phe526=
NM_001195803.2:c.1606+229T=	NP_001182732.1:n.1606+229T=