Canonical Allele Identifier: CA10585538

Gene: LDLR

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116144G>T , CM000681.2:g.11116144G>T	GRCh38
NC_000019.9:g.11226820G>T , CM000681.1:g.11226820G>T	GRCh37
NC_000019.8:g.11087820G>T	NCBI36
NG_009060.1:g.31764G>T , LRG_274:g.31764G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1895G>T	ENSP00000252444.6:p.Gly632Val
ENST00000559340.2:c.1637G>T	ENSP00000453696.2:p.Gly546Val
ENST00000560467.2:c.1517G>T	ENSP00000453513.2:p.Gly506Val
ENST00000558518.6:c.1637G>T MANE Select	ENSP00000454071.1:p.Gly546Val
ENST00000252444.9:c.1891G>T
ENST00000455727.6:c.1133G>T	ENSP00000397829.2:p.Gly378Val
ENST00000535915.5:c.1514G>T	ENSP00000440520.1:p.Gly505Val
ENST00000545707.5:c.1256G>T	ENSP00000437639.1:p.Gly419Val
ENST00000557933.5:c.1637G>T	ENSP00000453557.1:p.Gly546Val
ENST00000558013.5:c.1637G>T	ENSP00000453346.1:p.Gly546Val
ENST00000558518.5:c.1637G>T	ENSP00000454071.1:p.Gly546Val
ENST00000559340.1:c.358G>T
NM_000527.4:c.1637G>T , LRG_274t1:c.1637G>T	NP_000518.1:p.Gly546Val
NM_001195798.1:c.1637G>T	NP_001182727.1:p.Gly546Val
NM_001195799.1:c.1514G>T	NP_001182728.1:p.Gly505Val
NM_001195800.1:c.1133G>T	NP_001182729.1:p.Gly378Val
NM_001195803.1:c.1256G>T	NP_001182732.1:p.Gly419Val
XM_011528010.1:c.1637G>T	XP_011526312.1:p.Gly546Val
XM_011528011.1:c.1256G>T	XP_011526313.1:p.Gly419Val
XR_244074.2:n.1787G>T
XM_011528010.2:c.1637G>T	XP_011526312.1:p.Gly546Val
XR_001753685.2:n.1754G>T
XR_001753686.2:n.1754G>T
NM_000527.5:c.1637G>T MANE Select	NP_000518.1:p.Gly546Val
NM_001195798.2:c.1637G>T	NP_001182727.1:p.Gly546Val
NM_001195799.2:c.1514G>T	NP_001182728.1:p.Gly505Val
NM_001195800.2:c.1133G>T	NP_001182729.1:p.Gly378Val
NM_001195803.2:c.1256G>T	NP_001182732.1:p.Gly419Val