Canonical Allele Identifier: CA404099851
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240331C>G (hg19) chr19:g.11129655C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129655C>G , CM000681.2:g.11129655C>G GRCh38
NC_000019.9:g.11240331C>G , CM000681.1:g.11240331C>G GRCh37
NC_000019.8:g.11101331C>G NCBI36
NG_009060.1:g.45275C>G , LRG_274:g.45275C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2790C>G ENSP00000252444.6:p.Gly930=
ENST00000559340.2:c.*601C>G ENSP00000453696.2:n.*601C>G
ENST00000560467.2:c.2412C>G ENSP00000453513.2:p.Gly804=
ENST00000558518.6:c.2532C>G MANE Select ENSP00000454071.1:p.Gly844=
ENST00000252444.9:c.2786C>G
ENST00000455727.6:c.2028C>G ENSP00000397829.2:p.Gly676=
ENST00000535915.5:c.2409C>G ENSP00000440520.1:p.Gly803=
ENST00000545707.5:c.1998C>G ENSP00000437639.1:p.Gly666=
ENST00000557933.5:c.2594C>G ENSP00000453557.1:p.Ala865Gly
ENST00000558013.5:c.2532C>G ENSP00000453346.1:p.Gly844=
ENST00000558518.5:c.2532C>G ENSP00000454071.1:p.Gly844=
ENST00000560628.1:n.108+2001C>G
NM_000527.4:c.2532C>G , LRG_274t1:c.2532C>G NP_000518.1:p.Gly844=
NM_001195798.1:c.2532C>G NP_001182727.1:p.Gly844=
NM_001195799.1:c.2409C>G NP_001182728.1:p.Gly803=
NM_001195800.1:c.2028C>G NP_001182729.1:p.Gly676=
NM_001195803.1:c.1998C>G NP_001182732.1:p.Gly666=
XM_011528010.1:c.2454C>G XP_011526312.1:p.Gly818=
XM_011528011.1:c.2151C>G XP_011526313.1:p.Gly717=
XM_011528010.2:c.2454C>G XP_011526312.1:p.Gly818=
XR_001753685.2:n.2866C>G
XR_001753686.2:n.2509C>G
NM_000527.5:c.2532C>G MANE Select NP_000518.1:p.Gly844=
NM_001195798.2:c.2532C>G NP_001182727.1:p.Gly844=
NM_001195799.2:c.2409C>G NP_001182728.1:p.Gly803=
NM_001195800.2:c.2028C>G NP_001182729.1:p.Gly676=
NM_001195803.2:c.1998C>G NP_001182732.1:p.Gly666=
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