Canonical Allele Identifier: CA404092475
Gene: LDLR HGNC NCBI

Linked Data

COSMIC: COSM6330316
MyVariant Identifiers: chr19:g.11230791C>G (hg19) chr19:g.11120115C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120115C>G , CM000681.2:g.11120115C>G GRCh38
NC_000019.9:g.11230791C>G , CM000681.1:g.11230791C>G GRCh37
NC_000019.8:g.11091791C>G NCBI36
NG_009060.1:g.35735C>G , LRG_274:g.35735C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2127C>G ENSP00000252444.6:p.Ile709Met
ENST00000559340.2:c.1729C>G ENSP00000453696.2:p.His577Asp
ENST00000560467.2:c.1749C>G ENSP00000453513.2:p.Ile583Met
ENST00000558518.6:c.1869C>G MANE Select ENSP00000454071.1:p.Ile623Met
ENST00000252444.9:c.2123C>G
ENST00000455727.6:c.1365C>G ENSP00000397829.2:p.Ile455Met
ENST00000535915.5:c.1746C>G ENSP00000440520.1:p.Ile582Met
ENST00000545707.5:c.1488C>G ENSP00000437639.1:p.Ile496Met
ENST00000557933.5:c.1869C>G ENSP00000453557.1:p.Ile623Met
ENST00000558013.5:c.1869C>G ENSP00000453346.1:p.Ile623Met
ENST00000558518.5:c.1869C>G ENSP00000454071.1:p.Ile623Met
ENST00000559340.1:c.450C>G
NM_000527.4:c.1869C>G , LRG_274t1:c.1869C>G NP_000518.1:p.Ile623Met
NM_001195798.1:c.1869C>G NP_001182727.1:p.Ile623Met
NM_001195799.1:c.1746C>G NP_001182728.1:p.Ile582Met
NM_001195800.1:c.1365C>G NP_001182729.1:p.Ile455Met
NM_001195803.1:c.1488C>G NP_001182732.1:p.Ile496Met
XM_011528010.1:c.1869C>G XP_011526312.1:p.Ile623Met
XM_011528011.1:c.1488C>G XP_011526313.1:p.Ile496Met
XR_244074.2:n.1879C>G
XM_011528010.2:c.1869C>G XP_011526312.1:p.Ile623Met
XR_001753685.2:n.1986C>G
XR_001753686.2:n.1846C>G
NM_000527.5:c.1869C>G MANE Select NP_000518.1:p.Ile623Met
NM_001195798.2:c.1869C>G NP_001182727.1:p.Ile623Met
NM_001195799.2:c.1746C>G NP_001182728.1:p.Ile582Met
NM_001195800.2:c.1365C>G NP_001182729.1:p.Ile455Met
NM_001195803.2:c.1488C>G NP_001182732.1:p.Ile496Met
Search 100 bp 5'
Search 100 bp 3'