Canonical Allele Identifier: CA404099380
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240288A>G (hg19) chr19:g.11129612A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129612A>G , CM000681.2:g.11129612A>G GRCh38
NC_000019.9:g.11240288A>G , CM000681.1:g.11240288A>G GRCh37
NC_000019.8:g.11101288A>G NCBI36
NG_009060.1:g.45232A>G , LRG_274:g.45232A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2747A>G ENSP00000252444.6:p.Lys916Arg
ENST00000559340.2:c.*558A>G ENSP00000453696.2:n.*558A>G
ENST00000560467.2:c.2369A>G ENSP00000453513.2:p.Lys790Arg
ENST00000558518.6:c.2489A>G MANE Select ENSP00000454071.1:p.Lys830Arg
ENST00000252444.9:c.2743A>G
ENST00000455727.6:c.1985A>G ENSP00000397829.2:p.Lys662Arg
ENST00000535915.5:c.2366A>G ENSP00000440520.1:p.Lys789Arg
ENST00000545707.5:c.1955A>G ENSP00000437639.1:p.Lys652Arg
ENST00000557933.5:c.2551A>G ENSP00000453557.1:p.Arg851Gly
ENST00000558013.5:c.2489A>G ENSP00000453346.1:p.Lys830Arg
ENST00000558518.5:c.2489A>G ENSP00000454071.1:p.Lys830Arg
ENST00000560628.1:n.108+1958A>G
NM_000527.4:c.2489A>G , LRG_274t1:c.2489A>G NP_000518.1:p.Lys830Arg
NM_001195798.1:c.2489A>G NP_001182727.1:p.Lys830Arg
NM_001195799.1:c.2366A>G NP_001182728.1:p.Lys789Arg
NM_001195800.1:c.1985A>G NP_001182729.1:p.Lys662Arg
NM_001195803.1:c.1955A>G NP_001182732.1:p.Lys652Arg
XM_011528010.1:c.2411A>G XP_011526312.1:p.Lys804Arg
XM_011528011.1:c.2108A>G XP_011526313.1:p.Lys703Arg
XM_011528010.2:c.2411A>G XP_011526312.1:p.Lys804Arg
XR_001753685.2:n.2823A>G
XR_001753686.2:n.2466A>G
NM_000527.5:c.2489A>G MANE Select NP_000518.1:p.Lys830Arg
NM_001195798.2:c.2489A>G NP_001182727.1:p.Lys830Arg
NM_001195799.2:c.2366A>G NP_001182728.1:p.Lys789Arg
NM_001195800.2:c.1985A>G NP_001182729.1:p.Lys662Arg
NM_001195803.2:c.1955A>G NP_001182732.1:p.Lys652Arg
Search 100 bp 5'
Search 100 bp 3'