Canonical Allele Identifier: CA505485072

Gene: LDLR

Linked Data

• MyVariant Identifiers: chr19:g.11218111C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107435C>A , CM000681.2:g.11107435C>A	GRCh38
NC_000019.9:g.11218111C>A , CM000681.1:g.11218111C>A	GRCh37
NC_000019.8:g.11079111C>A	NCBI36
NG_009060.1:g.23055C>A , LRG_274:g.23055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1119C>A	ENSP00000252444.6:p.Gly373=
ENST00000559340.2:c.861C>A	ENSP00000453696.2:p.Gly287=
ENST00000560467.2:c.861C>A	ENSP00000453513.2:p.Gly287=
ENST00000558518.6:c.861C>A MANE Select	ENSP00000454071.1:p.Gly287=
ENST00000252444.9:c.1115C>A
ENST00000455727.6:c.357C>A	ENSP00000397829.2:p.Gly119=
ENST00000535915.5:c.738C>A	ENSP00000440520.1:p.Gly246=
ENST00000545707.5:c.480C>A	ENSP00000437639.1:p.Gly160=
ENST00000557933.5:c.861C>A	ENSP00000453557.1:p.Gly287=
ENST00000558013.5:c.861C>A	ENSP00000453346.1:p.Gly287=
ENST00000558518.5:c.861C>A	ENSP00000454071.1:p.Gly287=
ENST00000558528.1:n.376C>A
ENST00000560467.1:c.461C>A
NM_000527.4:c.861C>A , LRG_274t1:c.861C>A	NP_000518.1:p.Gly287=
NM_001195798.1:c.861C>A	NP_001182727.1:p.Gly287=
NM_001195799.1:c.738C>A	NP_001182728.1:p.Gly246=
NM_001195800.1:c.357C>A	NP_001182729.1:p.Gly119=
NM_001195803.1:c.480C>A	NP_001182732.1:p.Gly160=
XM_011528010.1:c.861C>A	XP_011526312.1:p.Gly287=
XM_011528011.1:c.480C>A	XP_011526313.1:p.Gly160=
XR_244074.2:n.1011C>A
XM_011528010.2:c.861C>A	XP_011526312.1:p.Gly287=
XR_001753685.2:n.978C>A
XR_001753686.2:n.978C>A
NM_000527.5:c.861C>A MANE Select	NP_000518.1:p.Gly287=
NM_001195798.2:c.861C>A	NP_001182727.1:p.Gly287=
NM_001195799.2:c.738C>A	NP_001182728.1:p.Gly246=
NM_001195800.2:c.357C>A	NP_001182729.1:p.Gly119=
NM_001195803.2:c.480C>A	NP_001182732.1:p.Gly160=