Canonical Allele Identifier: CA505486136
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11227542C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11116866C>A , CM000681.2:g.11116866C>A GRCh38
NC_000019.9:g.11227542C>A , CM000681.1:g.11227542C>A GRCh37
NC_000019.8:g.11088542C>A NCBI36
NG_009060.1:g.32486C>A , LRG_274:g.32486C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1971C>A ENSP00000252444.6:p.Leu657=
ENST00000559340.2:c.1705+654C>A ENSP00000453696.2:n.1705+654C>A
ENST00000560467.2:c.1593C>A ENSP00000453513.2:p.Leu531=
ENST00000558518.6:c.1713C>A MANE Select ENSP00000454071.1:p.Leu571=
ENST00000252444.9:c.1967C>A
ENST00000455727.6:c.1209C>A ENSP00000397829.2:p.Leu403=
ENST00000535915.5:c.1590C>A ENSP00000440520.1:p.Leu530=
ENST00000545707.5:c.1332C>A ENSP00000437639.1:p.Leu444=
ENST00000557933.5:c.1713C>A ENSP00000453557.1:p.Leu571=
ENST00000558013.5:c.1713C>A ENSP00000453346.1:p.Leu571=
ENST00000558518.5:c.1713C>A ENSP00000454071.1:p.Leu571=
ENST00000559340.1:c.426+654C>A
NM_000527.4:c.1713C>A , LRG_274t1:c.1713C>A NP_000518.1:p.Leu571=
NM_001195798.1:c.1713C>A NP_001182727.1:p.Leu571=
NM_001195799.1:c.1590C>A NP_001182728.1:p.Leu530=
NM_001195800.1:c.1209C>A NP_001182729.1:p.Leu403=
NM_001195803.1:c.1332C>A NP_001182732.1:p.Leu444=
XM_011528010.1:c.1713C>A XP_011526312.1:p.Leu571=
XM_011528011.1:c.1332C>A XP_011526313.1:p.Leu444=
XR_244074.2:n.1855+654C>A
XM_011528010.2:c.1713C>A XP_011526312.1:p.Leu571=
XR_001753685.2:n.1830C>A
XR_001753686.2:n.1822+654C>A
NM_000527.5:c.1713C>A MANE Select NP_000518.1:p.Leu571=
NM_001195798.2:c.1713C>A NP_001182727.1:p.Leu571=
NM_001195799.2:c.1590C>A NP_001182728.1:p.Leu530=
NM_001195800.2:c.1209C>A NP_001182729.1:p.Leu403=
NM_001195803.2:c.1332C>A NP_001182732.1:p.Leu444=