Canonical Allele Identifier: CA2322773638

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116863C= , CM000681.2:g.11116863C=	GRCh38
NC_000019.9:g.11227539C= , CM000681.1:g.11227539C=	GRCh37
NC_000019.8:g.11088539C=	NCBI36
NG_009060.1:g.32483C= , LRG_274:g.32483C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1968C=	ENSP00000252444.6:p.Leu656=
ENST00000559340.2:c.1705+651C=	ENSP00000453696.2:n.1705+651C=
ENST00000560467.2:c.1590C=	ENSP00000453513.2:p.Leu530=
ENST00000558518.6:c.1710C= MANE Select	ENSP00000454071.1:p.Leu570=
ENST00000252444.9:c.1964C=
ENST00000455727.6:c.1206C=	ENSP00000397829.2:p.Leu402=
ENST00000535915.5:c.1587C=	ENSP00000440520.1:p.Leu529=
ENST00000545707.5:c.1329C=	ENSP00000437639.1:p.Leu443=
ENST00000557933.5:c.1710C=	ENSP00000453557.1:p.Leu570=
ENST00000558013.5:c.1710C=	ENSP00000453346.1:p.Leu570=
ENST00000558518.5:c.1710C=	ENSP00000454071.1:p.Leu570=
ENST00000559340.1:c.426+651C=
NM_000527.4:c.1710C= , LRG_274t1:c.1710C=	NP_000518.1:p.Leu570=
NM_001195798.1:c.1710C=	NP_001182727.1:p.Leu570=
NM_001195799.1:c.1587C=	NP_001182728.1:p.Leu529=
NM_001195800.1:c.1206C=	NP_001182729.1:p.Leu402=
NM_001195803.1:c.1329C=	NP_001182732.1:p.Leu443=
XM_011528010.1:c.1710C=	XP_011526312.1:p.Leu570=
XM_011528011.1:c.1329C=	XP_011526313.1:p.Leu443=
XR_244074.2:n.1855+651C=
XM_011528010.2:c.1710C=	XP_011526312.1:p.Leu570=
XR_001753685.2:n.1827C=
XR_001753686.2:n.1822+651C=
NM_000527.5:c.1710C= MANE Select	NP_000518.1:p.Leu570=
NM_001195798.2:c.1710C=	NP_001182727.1:p.Leu570=
NM_001195799.2:c.1587C=	NP_001182728.1:p.Leu529=
NM_001195800.2:c.1206C=	NP_001182729.1:p.Leu402=
NM_001195803.2:c.1329C=	NP_001182732.1:p.Leu443=