Canonical Allele Identifier: CA505743340
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11230860A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120184A>C , CM000681.2:g.11120184A>C GRCh38
NC_000019.9:g.11230860A>C , CM000681.1:g.11230860A>C GRCh37
NC_000019.8:g.11091860A>C NCBI36
NG_009060.1:g.35804A>C , LRG_274:g.35804A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2196A>C ENSP00000252444.6:p.Leu732=
ENST00000559340.2:c.*7A>C ENSP00000453696.2:n.*7A>C
ENST00000560467.2:c.1818A>C ENSP00000453513.2:p.Leu606=
ENST00000558518.6:c.1938A>C MANE Select ENSP00000454071.1:p.Leu646=
ENST00000252444.9:c.2192A>C
ENST00000455727.6:c.1434A>C ENSP00000397829.2:p.Leu478=
ENST00000535915.5:c.1815A>C ENSP00000440520.1:p.Leu605=
ENST00000545707.5:c.1557A>C ENSP00000437639.1:p.Leu519=
ENST00000557933.5:c.1938A>C ENSP00000453557.1:p.Leu646=
ENST00000558013.5:c.1938A>C ENSP00000453346.1:p.Leu646=
ENST00000558518.5:c.1938A>C ENSP00000454071.1:p.Leu646=
ENST00000559340.1:c.519A>C
NM_000527.4:c.1938A>C , LRG_274t1:c.1938A>C NP_000518.1:p.Leu646=
NM_001195798.1:c.1938A>C NP_001182727.1:p.Leu646=
NM_001195799.1:c.1815A>C NP_001182728.1:p.Leu605=
NM_001195800.1:c.1434A>C NP_001182729.1:p.Leu478=
NM_001195803.1:c.1557A>C NP_001182732.1:p.Leu519=
XM_011528010.1:c.1938A>C XP_011526312.1:p.Leu646=
XM_011528011.1:c.1557A>C XP_011526313.1:p.Leu519=
XR_244074.2:n.1948A>C
XM_011528010.2:c.1938A>C XP_011526312.1:p.Leu646=
XR_001753685.2:n.2055A>C
XR_001753686.2:n.1915A>C
NM_000527.5:c.1938A>C MANE Select NP_000518.1:p.Leu646=
NM_001195798.2:c.1938A>C NP_001182727.1:p.Leu646=
NM_001195799.2:c.1815A>C NP_001182728.1:p.Leu605=
NM_001195800.2:c.1434A>C NP_001182729.1:p.Leu478=
NM_001195803.2:c.1557A>C NP_001182732.1:p.Leu519=
Search 100 bp 5'
Search 100 bp 3'