Canonical Allele Identifier: CA505743354
Gene: LDLR HGNC NCBI

Linked Data

COSMIC: COSM990788
MyVariant Identifiers: chr19:g.11230776A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120100A>C , CM000681.2:g.11120100A>C GRCh38
NC_000019.9:g.11230776A>C , CM000681.1:g.11230776A>C GRCh37
NC_000019.8:g.11091776A>C NCBI36
NG_009060.1:g.35720A>C , LRG_274:g.35720A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2112A>C ENSP00000252444.6:p.Val704=
ENST00000559340.2:c.1714A>C ENSP00000453696.2:p.Ile572Leu
ENST00000560467.2:c.1734A>C ENSP00000453513.2:p.Val578=
ENST00000558518.6:c.1854A>C MANE Select ENSP00000454071.1:p.Val618=
ENST00000252444.9:c.2108A>C
ENST00000455727.6:c.1350A>C ENSP00000397829.2:p.Val450=
ENST00000535915.5:c.1731A>C ENSP00000440520.1:p.Val577=
ENST00000545707.5:c.1473A>C ENSP00000437639.1:p.Val491=
ENST00000557933.5:c.1854A>C ENSP00000453557.1:p.Val618=
ENST00000558013.5:c.1854A>C ENSP00000453346.1:p.Val618=
ENST00000558518.5:c.1854A>C ENSP00000454071.1:p.Val618=
ENST00000559340.1:c.435A>C
NM_000527.4:c.1854A>C , LRG_274t1:c.1854A>C NP_000518.1:p.Val618=
NM_001195798.1:c.1854A>C NP_001182727.1:p.Val618=
NM_001195799.1:c.1731A>C NP_001182728.1:p.Val577=
NM_001195800.1:c.1350A>C NP_001182729.1:p.Val450=
NM_001195803.1:c.1473A>C NP_001182732.1:p.Val491=
XM_011528010.1:c.1854A>C XP_011526312.1:p.Val618=
XM_011528011.1:c.1473A>C XP_011526313.1:p.Val491=
XR_244074.2:n.1864A>C
XM_011528010.2:c.1854A>C XP_011526312.1:p.Val618=
XR_001753685.2:n.1971A>C
XR_001753686.2:n.1831A>C
NM_000527.5:c.1854A>C MANE Select NP_000518.1:p.Val618=
NM_001195798.2:c.1854A>C NP_001182727.1:p.Val618=
NM_001195799.2:c.1731A>C NP_001182728.1:p.Val577=
NM_001195800.2:c.1350A>C NP_001182729.1:p.Val450=
NM_001195803.2:c.1473A>C NP_001182732.1:p.Val491=