Canonical Allele Identifier: CA505487484
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11238709A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128033A>C , CM000681.2:g.11128033A>C GRCh38
NC_000019.9:g.11238709A>C , CM000681.1:g.11238709A>C GRCh37
NC_000019.8:g.11099709A>C NCBI36
NG_009060.1:g.43653A>C , LRG_274:g.43653A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2595A>C ENSP00000252444.6:p.Gly865=
ENST00000559340.2:c.*406A>C ENSP00000453696.2:n.*406A>C
ENST00000560467.2:c.2217A>C ENSP00000453513.2:p.Gly739=
ENST00000558518.6:c.2337A>C MANE Select ENSP00000454071.1:p.Gly779=
ENST00000252444.9:c.2591A>C
ENST00000455727.6:c.1833A>C ENSP00000397829.2:p.Gly611=
ENST00000535915.5:c.2214A>C ENSP00000440520.1:p.Gly738=
ENST00000545707.5:c.1803A>C ENSP00000437639.1:p.Gly601=
ENST00000557933.5:c.2337A>C ENSP00000453557.1:p.Gly779=
ENST00000558013.5:c.2337A>C ENSP00000453346.1:p.Gly779=
ENST00000558518.5:c.2337A>C ENSP00000454071.1:p.Gly779=
ENST00000560628.1:n.108+379A>C
NM_000527.4:c.2337A>C , LRG_274t1:c.2337A>C NP_000518.1:p.Gly779=
NM_001195798.1:c.2337A>C NP_001182727.1:p.Gly779=
NM_001195799.1:c.2214A>C NP_001182728.1:p.Gly738=
NM_001195800.1:c.1833A>C NP_001182729.1:p.Gly611=
NM_001195803.1:c.1803A>C NP_001182732.1:p.Gly601=
XM_011528010.1:c.2312-1480A>C XP_011526312.1:n.2312-1480A>C
XM_011528011.1:c.1956A>C XP_011526313.1:p.Gly652=
XR_244074.2:n.2347A>C
XM_011528010.2:c.2312-1480A>C XP_011526312.1:n.2312-1480A>C
XR_001753685.2:n.2671A>C
XR_001753686.2:n.2314A>C
NM_000527.5:c.2337A>C MANE Select NP_000518.1:p.Gly779=
NM_001195798.2:c.2337A>C NP_001182727.1:p.Gly779=
NM_001195799.2:c.2214A>C NP_001182728.1:p.Gly738=
NM_001195800.2:c.1833A>C NP_001182729.1:p.Gly611=
NM_001195803.2:c.1803A>C NP_001182732.1:p.Gly601=