Canonical Allele Identifier: CA505487503
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11238739T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128063T>C , CM000681.2:g.11128063T>C GRCh38
NC_000019.9:g.11238739T>C , CM000681.1:g.11238739T>C GRCh37
NC_000019.8:g.11099739T>C NCBI36
NG_009060.1:g.43683T>C , LRG_274:g.43683T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2625T>C ENSP00000252444.6:p.Ala875=
ENST00000559340.2:c.*436T>C ENSP00000453696.2:n.*436T>C
ENST00000560467.2:c.2247T>C ENSP00000453513.2:p.Ala749=
ENST00000558518.6:c.2367T>C MANE Select ENSP00000454071.1:p.Ala789=
ENST00000252444.9:c.2621T>C
ENST00000455727.6:c.1863T>C ENSP00000397829.2:p.Ala621=
ENST00000535915.5:c.2244T>C ENSP00000440520.1:p.Ala748=
ENST00000545707.5:c.1833T>C ENSP00000437639.1:p.Ala611=
ENST00000557933.5:c.2367T>C ENSP00000453557.1:p.Ala789=
ENST00000558013.5:c.2367T>C ENSP00000453346.1:p.Ala789=
ENST00000558518.5:c.2367T>C ENSP00000454071.1:p.Ala789=
ENST00000560628.1:n.108+409T>C
NM_000527.4:c.2367T>C , LRG_274t1:c.2367T>C NP_000518.1:p.Ala789=
NM_001195798.1:c.2367T>C NP_001182727.1:p.Ala789=
NM_001195799.1:c.2244T>C NP_001182728.1:p.Ala748=
NM_001195800.1:c.1863T>C NP_001182729.1:p.Ala621=
NM_001195803.1:c.1833T>C NP_001182732.1:p.Ala611=
XM_011528010.1:c.2312-1450T>C XP_011526312.1:n.2312-1450T>C
XM_011528011.1:c.1986T>C XP_011526313.1:p.Ala662=
XR_244074.2:n.2377T>C
XM_011528010.2:c.2312-1450T>C XP_011526312.1:n.2312-1450T>C
XR_001753685.2:n.2701T>C
XR_001753686.2:n.2344T>C
NM_000527.5:c.2367T>C MANE Select NP_000518.1:p.Ala789=
NM_001195798.2:c.2367T>C NP_001182727.1:p.Ala789=
NM_001195799.2:c.2244T>C NP_001182728.1:p.Ala748=
NM_001195800.2:c.1863T>C NP_001182729.1:p.Ala621=
NM_001195803.2:c.1833T>C NP_001182732.1:p.Ala611=