Canonical Allele Identifier: CA505486911
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1269677920
gnomAD v2: 19-11233905-C-T
gnomAD v4: 19-11123229-C-T
MyVariant Identifiers: chr19:g.11233905C>T (hg19) chr19:g.11123229C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11123229C>T , CM000681.2:g.11123229C>T GRCh38
NC_000019.9:g.11233905C>T , CM000681.1:g.11233905C>T GRCh37
NC_000019.8:g.11094905C>T NCBI36
NG_009060.1:g.38849C>T , LRG_274:g.38849C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2454C>T ENSP00000252444.6:p.Ser818=
ENST00000559340.2:c.*265C>T ENSP00000453696.2:n.*265C>T
ENST00000560467.2:c.2076C>T ENSP00000453513.2:p.Ser692=
ENST00000558518.6:c.2196C>T MANE Select ENSP00000454071.1:p.Ser732=
ENST00000252444.9:c.2450C>T
ENST00000455727.6:c.1692C>T ENSP00000397829.2:p.Ser564=
ENST00000535915.5:c.2073C>T ENSP00000440520.1:p.Ser691=
ENST00000545707.5:c.1662C>T ENSP00000437639.1:p.Ser554=
ENST00000557933.5:c.2196C>T ENSP00000453557.1:p.Ser732=
ENST00000558013.5:c.2196C>T ENSP00000453346.1:p.Ser732=
ENST00000558518.5:c.2196C>T ENSP00000454071.1:p.Ser732=
NM_000527.4:c.2196C>T , LRG_274t1:c.2196C>T NP_000518.1:p.Ser732=
NM_001195798.1:c.2196C>T NP_001182727.1:p.Ser732=
NM_001195799.1:c.2073C>T NP_001182728.1:p.Ser691=
NM_001195800.1:c.1692C>T NP_001182729.1:p.Ser564=
NM_001195803.1:c.1662C>T NP_001182732.1:p.Ser554=
XM_011528010.1:c.2196C>T XP_011526312.1:p.Ser732=
XM_011528011.1:c.1815C>T XP_011526313.1:p.Ser605=
XR_244074.2:n.2206C>T
XM_011528010.2:c.2196C>T XP_011526312.1:p.Ser732=
XR_001753685.2:n.2530C>T
XR_001753686.2:n.2173C>T
NM_000527.5:c.2196C>T MANE Select NP_000518.1:p.Ser732=
NM_001195798.2:c.2196C>T NP_001182727.1:p.Ser732=
NM_001195799.2:c.2073C>T NP_001182728.1:p.Ser691=
NM_001195800.2:c.1692C>T NP_001182729.1:p.Ser564=
NM_001195803.2:c.1662C>T NP_001182732.1:p.Ser554=
Search 100 bp 5'
Search 100 bp 3'