Canonical Allele Identifier: CA505743302

Gene: LDLR

Linked Data

• ClinVar Variation Id: 923571
• ClinVar RCV Id: RCV001184386
• dbSNP Id: rs1568604780
• MyVariant Identifiers: chr19:g.11224385A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113709A>G , CM000681.2:g.11113709A>G	GRCh38
NC_000019.9:g.11224385A>G , CM000681.1:g.11224385A>G	GRCh37
NC_000019.8:g.11085385A>G	NCBI36
NG_009060.1:g.29329A>G , LRG_274:g.29329A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1791A>G	ENSP00000252444.6:p.Leu597=
ENST00000559340.2:c.1533A>G	ENSP00000453696.2:p.Leu511=
ENST00000560467.2:c.1413A>G	ENSP00000453513.2:p.Leu471=
ENST00000558518.6:c.1533A>G MANE Select	ENSP00000454071.1:p.Leu511=
ENST00000252444.9:c.1787A>G
ENST00000455727.6:c.1029A>G	ENSP00000397829.2:p.Leu343=
ENST00000535915.5:c.1410A>G	ENSP00000440520.1:p.Leu470=
ENST00000545707.5:c.1152A>G	ENSP00000437639.1:p.Leu384=
ENST00000557933.5:c.1533A>G	ENSP00000453557.1:p.Leu511=
ENST00000558013.5:c.1533A>G	ENSP00000453346.1:p.Leu511=
ENST00000558518.5:c.1533A>G	ENSP00000454071.1:p.Leu511=
ENST00000559340.1:c.254A>G
NM_000527.4:c.1533A>G , LRG_274t1:c.1533A>G	NP_000518.1:p.Leu511=
NM_001195798.1:c.1533A>G	NP_001182727.1:p.Leu511=
NM_001195799.1:c.1410A>G	NP_001182728.1:p.Leu470=
NM_001195800.1:c.1029A>G	NP_001182729.1:p.Leu343=
NM_001195803.1:c.1152A>G	NP_001182732.1:p.Leu384=
XM_011528010.1:c.1533A>G	XP_011526312.1:p.Leu511=
XM_011528011.1:c.1152A>G	XP_011526313.1:p.Leu384=
XR_244074.2:n.1683A>G
XM_011528010.2:c.1533A>G	XP_011526312.1:p.Leu511=
XR_001753685.2:n.1650A>G
XR_001753686.2:n.1650A>G
NM_000527.5:c.1533A>G MANE Select	NP_000518.1:p.Leu511=
NM_001195798.2:c.1533A>G	NP_001182727.1:p.Leu511=
NM_001195799.2:c.1410A>G	NP_001182728.1:p.Leu470=
NM_001195800.2:c.1029A>G	NP_001182729.1:p.Leu343=
NM_001195803.2:c.1152A>G	NP_001182732.1:p.Leu384=