Canonical Allele Identifier: CA404096667
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11238696T>G (hg19) chr19:g.11128020T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128020T>G , CM000681.2:g.11128020T>G GRCh38
NC_000019.9:g.11238696T>G , CM000681.1:g.11238696T>G GRCh37
NC_000019.8:g.11099696T>G NCBI36
NG_009060.1:g.43640T>G , LRG_274:g.43640T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2582T>G ENSP00000252444.6:p.Val861Gly
ENST00000559340.2:c.*393T>G ENSP00000453696.2:n.*393T>G
ENST00000560467.2:c.2204T>G ENSP00000453513.2:p.Val735Gly
ENST00000558518.6:c.2324T>G MANE Select ENSP00000454071.1:p.Val775Gly
ENST00000252444.9:c.2578T>G
ENST00000455727.6:c.1820T>G ENSP00000397829.2:p.Val607Gly
ENST00000535915.5:c.2201T>G ENSP00000440520.1:p.Val734Gly
ENST00000545707.5:c.1790T>G ENSP00000437639.1:p.Val597Gly
ENST00000557933.5:c.2324T>G ENSP00000453557.1:p.Val775Gly
ENST00000558013.5:c.2324T>G ENSP00000453346.1:p.Val775Gly
ENST00000558518.5:c.2324T>G ENSP00000454071.1:p.Val775Gly
ENST00000560628.1:n.108+366T>G
NM_000527.4:c.2324T>G , LRG_274t1:c.2324T>G NP_000518.1:p.Val775Gly
NM_001195798.1:c.2324T>G NP_001182727.1:p.Val775Gly
NM_001195799.1:c.2201T>G NP_001182728.1:p.Val734Gly
NM_001195800.1:c.1820T>G NP_001182729.1:p.Val607Gly
NM_001195803.1:c.1790T>G NP_001182732.1:p.Val597Gly
XM_011528010.1:c.2312-1493T>G XP_011526312.1:n.2312-1493T>G
XM_011528011.1:c.1943T>G XP_011526313.1:p.Val648Gly
XR_244074.2:n.2334T>G
XM_011528010.2:c.2312-1493T>G XP_011526312.1:n.2312-1493T>G
XR_001753685.2:n.2658T>G
XR_001753686.2:n.2301T>G
NM_000527.5:c.2324T>G MANE Select NP_000518.1:p.Val775Gly
NM_001195798.2:c.2324T>G NP_001182727.1:p.Val775Gly
NM_001195799.2:c.2201T>G NP_001182728.1:p.Val734Gly
NM_001195800.2:c.1820T>G NP_001182729.1:p.Val607Gly
NM_001195803.2:c.1790T>G NP_001182732.1:p.Val597Gly
Search 100 bp 5'
Search 100 bp 3'