Canonical Allele Identifier: CA404092671
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11230811G>A (hg19) chr19:g.11120135G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120135G>A , CM000681.2:g.11120135G>A GRCh38
NC_000019.9:g.11230811G>A , CM000681.1:g.11230811G>A GRCh37
NC_000019.8:g.11091811G>A NCBI36
NG_009060.1:g.35755G>A , LRG_274:g.35755G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2147G>A ENSP00000252444.6:p.Ser716Asn
ENST00000559340.2:c.1749G>A ENSP00000453696.2:p.Gln583=
ENST00000560467.2:c.1769G>A ENSP00000453513.2:p.Ser590Asn
ENST00000558518.6:c.1889G>A MANE Select ENSP00000454071.1:p.Ser630Asn
ENST00000252444.9:c.2143G>A
ENST00000455727.6:c.1385G>A ENSP00000397829.2:p.Ser462Asn
ENST00000535915.5:c.1766G>A ENSP00000440520.1:p.Ser589Asn
ENST00000545707.5:c.1508G>A ENSP00000437639.1:p.Ser503Asn
ENST00000557933.5:c.1889G>A ENSP00000453557.1:p.Ser630Asn
ENST00000558013.5:c.1889G>A ENSP00000453346.1:p.Ser630Asn
ENST00000558518.5:c.1889G>A ENSP00000454071.1:p.Ser630Asn
ENST00000559340.1:c.470G>A
NM_000527.4:c.1889G>A , LRG_274t1:c.1889G>A NP_000518.1:p.Ser630Asn
NM_001195798.1:c.1889G>A NP_001182727.1:p.Ser630Asn
NM_001195799.1:c.1766G>A NP_001182728.1:p.Ser589Asn
NM_001195800.1:c.1385G>A NP_001182729.1:p.Ser462Asn
NM_001195803.1:c.1508G>A NP_001182732.1:p.Ser503Asn
XM_011528010.1:c.1889G>A XP_011526312.1:p.Ser630Asn
XM_011528011.1:c.1508G>A XP_011526313.1:p.Ser503Asn
XR_244074.2:n.1899G>A
XM_011528010.2:c.1889G>A XP_011526312.1:p.Ser630Asn
XR_001753685.2:n.2006G>A
XR_001753686.2:n.1866G>A
NM_000527.5:c.1889G>A MANE Select NP_000518.1:p.Ser630Asn
NM_001195798.2:c.1889G>A NP_001182727.1:p.Ser630Asn
NM_001195799.2:c.1766G>A NP_001182728.1:p.Ser589Asn
NM_001195800.2:c.1385G>A NP_001182729.1:p.Ser462Asn
NM_001195803.2:c.1508G>A NP_001182732.1:p.Ser503Asn
Search 100 bp 5'
Search 100 bp 3'