Canonical Allele Identifier: CA2322775604

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120445A= , CM000681.2:g.11120445A=	GRCh38
NC_000019.9:g.11231121A= , CM000681.1:g.11231121A=	GRCh37
NC_000019.8:g.11092121A=	NCBI36
NG_009060.1:g.36065A= , LRG_274:g.36065A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2321A=	ENSP00000252444.6:p.Asn774=
ENST00000559340.2:c.*132A=	ENSP00000453696.2:n.*132A=
ENST00000560467.2:c.1943A=	ENSP00000453513.2:p.Asn648=
ENST00000558518.6:c.2063A= MANE Select	ENSP00000454071.1:p.Asn688=
ENST00000252444.9:c.2317A=
ENST00000455727.6:c.1559A=	ENSP00000397829.2:p.Asn520=
ENST00000535915.5:c.1940A=	ENSP00000440520.1:p.Asn647=
ENST00000545707.5:c.1606+212A=	ENSP00000437639.1:n.1606+212A=
ENST00000557933.5:c.2063A=	ENSP00000453557.1:p.Asn688=
ENST00000558013.5:c.2063A=	ENSP00000453346.1:p.Asn688=
ENST00000558518.5:c.2063A=	ENSP00000454071.1:p.Asn688=
NM_000527.4:c.2063A= , LRG_274t1:c.2063A=	NP_000518.1:p.Asn688=
NM_001195798.1:c.2063A=	NP_001182727.1:p.Asn688=
NM_001195799.1:c.1940A=	NP_001182728.1:p.Asn647=
NM_001195800.1:c.1559A=	NP_001182729.1:p.Asn520=
NM_001195803.1:c.1606+212A=	NP_001182732.1:n.1606+212A=
XM_011528010.1:c.2063A=	XP_011526312.1:p.Asn688=
XM_011528011.1:c.1682A=	XP_011526313.1:p.Asn561=
XR_244074.2:n.2073A=
XM_011528010.2:c.2063A=	XP_011526312.1:p.Asn688=
XR_001753685.2:n.2180A=
XR_001753686.2:n.2040A=
NM_000527.5:c.2063A= MANE Select	NP_000518.1:p.Asn688=
NM_001195798.2:c.2063A=	NP_001182727.1:p.Asn688=
NM_001195799.2:c.1940A=	NP_001182728.1:p.Asn647=
NM_001195800.2:c.1559A=	NP_001182729.1:p.Asn520=
NM_001195803.2:c.1606+212A=	NP_001182732.1:n.1606+212A=