Canonical Allele Identifier: CA505486661
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11231197A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120521A>T , CM000681.2:g.11120521A>T GRCh38
NC_000019.9:g.11231197A>T , CM000681.1:g.11231197A>T GRCh37
NC_000019.8:g.11092197A>T NCBI36
NG_009060.1:g.36141A>T , LRG_274:g.36141A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2397A>T ENSP00000252444.6:p.Thr799=
ENST00000559340.2:c.*208A>T ENSP00000453696.2:n.*208A>T
ENST00000560467.2:c.2019A>T ENSP00000453513.2:p.Thr673=
ENST00000558518.6:c.2139A>T MANE Select ENSP00000454071.1:p.Thr713=
ENST00000252444.9:c.2393A>T
ENST00000455727.6:c.1635A>T ENSP00000397829.2:p.Thr545=
ENST00000535915.5:c.2016A>T ENSP00000440520.1:p.Thr672=
ENST00000545707.5:c.1606+288A>T ENSP00000437639.1:n.1606+288A>T
ENST00000557933.5:c.2139A>T ENSP00000453557.1:p.Thr713=
ENST00000558013.5:c.2139A>T ENSP00000453346.1:p.Thr713=
ENST00000558518.5:c.2139A>T ENSP00000454071.1:p.Thr713=
NM_000527.4:c.2139A>T , LRG_274t1:c.2139A>T NP_000518.1:p.Thr713=
NM_001195798.1:c.2139A>T NP_001182727.1:p.Thr713=
NM_001195799.1:c.2016A>T NP_001182728.1:p.Thr672=
NM_001195800.1:c.1635A>T NP_001182729.1:p.Thr545=
NM_001195803.1:c.1606+288A>T NP_001182732.1:n.1606+288A>T
XM_011528010.1:c.2139A>T XP_011526312.1:p.Thr713=
XM_011528011.1:c.1758A>T XP_011526313.1:p.Thr586=
XR_244074.2:n.2149A>T
XM_011528010.2:c.2139A>T XP_011526312.1:p.Thr713=
XR_001753685.2:n.2256A>T
XR_001753686.2:n.2116A>T
NM_000527.5:c.2139A>T MANE Select NP_000518.1:p.Thr713=
NM_001195798.2:c.2139A>T NP_001182727.1:p.Thr713=
NM_001195799.2:c.2016A>T NP_001182728.1:p.Thr672=
NM_001195800.2:c.1635A>T NP_001182729.1:p.Thr545=
NM_001195803.2:c.1606+288A>T NP_001182732.1:n.1606+288A>T