Canonical Allele Identifier: CA404092749
Gene: LDLR HGNC NCBI

Linked Data

gnomAD v4: 19-11120143-C-A
MyVariant Identifiers: chr19:g.11230819C>A (hg19) chr19:g.11120143C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120143C>A , CM000681.2:g.11120143C>A GRCh38
NC_000019.9:g.11230819C>A , CM000681.1:g.11230819C>A GRCh37
NC_000019.8:g.11091819C>A NCBI36
NG_009060.1:g.35763C>A , LRG_274:g.35763C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2155C>A ENSP00000252444.6:p.Arg719Ser
ENST00000559340.2:c.1757C>A ENSP00000453696.2:p.Pro586Gln
ENST00000560467.2:c.1777C>A ENSP00000453513.2:p.Arg593Ser
ENST00000558518.6:c.1897C>A MANE Select ENSP00000454071.1:p.Arg633Ser
ENST00000252444.9:c.2151C>A
ENST00000455727.6:c.1393C>A ENSP00000397829.2:p.Arg465Ser
ENST00000535915.5:c.1774C>A ENSP00000440520.1:p.Arg592Ser
ENST00000545707.5:c.1516C>A ENSP00000437639.1:p.Arg506Ser
ENST00000557933.5:c.1897C>A ENSP00000453557.1:p.Arg633Ser
ENST00000558013.5:c.1897C>A ENSP00000453346.1:p.Arg633Ser
ENST00000558518.5:c.1897C>A ENSP00000454071.1:p.Arg633Ser
ENST00000559340.1:c.478C>A
NM_000527.4:c.1897C>A , LRG_274t1:c.1897C>A NP_000518.1:p.Arg633Ser
NM_001195798.1:c.1897C>A NP_001182727.1:p.Arg633Ser
NM_001195799.1:c.1774C>A NP_001182728.1:p.Arg592Ser
NM_001195800.1:c.1393C>A NP_001182729.1:p.Arg465Ser
NM_001195803.1:c.1516C>A NP_001182732.1:p.Arg506Ser
XM_011528010.1:c.1897C>A XP_011526312.1:p.Arg633Ser
XM_011528011.1:c.1516C>A XP_011526313.1:p.Arg506Ser
XR_244074.2:n.1907C>A
XM_011528010.2:c.1897C>A XP_011526312.1:p.Arg633Ser
XR_001753685.2:n.2014C>A
XR_001753686.2:n.1874C>A
NM_000527.5:c.1897C>A MANE Select NP_000518.1:p.Arg633Ser
NM_001195798.2:c.1897C>A NP_001182727.1:p.Arg633Ser
NM_001195799.2:c.1774C>A NP_001182728.1:p.Arg592Ser
NM_001195800.2:c.1393C>A NP_001182729.1:p.Arg465Ser
NM_001195803.2:c.1516C>A NP_001182732.1:p.Arg506Ser
Search 100 bp 5'
Search 100 bp 3'