Canonical Allele Identifier: CA404075836
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11213454A>G (hg19) chr19:g.11102778A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102778A>G , CM000681.2:g.11102778A>G GRCh38
NC_000019.9:g.11213454A>G , CM000681.1:g.11213454A>G GRCh37
NC_000019.8:g.11074454A>G NCBI36
NG_009060.1:g.18398A>G , LRG_274:g.18398A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.563A>G ENSP00000252444.6:p.Gln188Arg
ENST00000559340.2:c.305A>G ENSP00000453696.2:p.Gln102Arg
ENST00000560467.2:c.305A>G ENSP00000453513.2:p.Gln102Arg
ENST00000558518.6:c.305A>G MANE Select ENSP00000454071.1:p.Gln102Arg
ENST00000252444.9:c.559A>G
ENST00000455727.6:c.305A>G ENSP00000397829.2:p.Gln102Arg
ENST00000535915.5:c.190+2433A>G ENSP00000440520.1:n.190+2433A>G
ENST00000545707.5:c.305A>G ENSP00000437639.1:p.Gln102Arg
ENST00000557933.5:c.305A>G ENSP00000453557.1:p.Gln102Arg
ENST00000557958.1:n.391A>G
ENST00000558013.5:c.305A>G ENSP00000453346.1:p.Gln102Arg
ENST00000558518.5:c.305A>G ENSP00000454071.1:p.Gln102Arg
NM_000527.4:c.305A>G , LRG_274t1:c.305A>G NP_000518.1:p.Gln102Arg
NM_001195798.1:c.305A>G NP_001182727.1:p.Gln102Arg
NM_001195799.1:c.190+2433A>G NP_001182728.1:n.190+2433A>G
NM_001195800.1:c.305A>G NP_001182729.1:p.Gln102Arg
NM_001195803.1:c.305A>G NP_001182732.1:p.Gln102Arg
XM_011528010.1:c.305A>G XP_011526312.1:p.Gln102Arg
XM_011528011.1:c.305A>G XP_011526313.1:p.Gln102Arg
XR_244074.2:n.455A>G
XM_011528010.2:c.305A>G XP_011526312.1:p.Gln102Arg
XR_001753685.2:n.422A>G
XR_001753686.2:n.422A>G
NM_000527.5:c.305A>G MANE Select NP_000518.1:p.Gln102Arg
NM_001195798.2:c.305A>G NP_001182727.1:p.Gln102Arg
NM_001195799.2:c.190+2433A>G NP_001182728.1:n.190+2433A>G
NM_001195800.2:c.305A>G NP_001182729.1:p.Gln102Arg
NM_001195803.2:c.305A>G NP_001182732.1:p.Gln102Arg
Search 100 bp 5'
Search 100 bp 3'