Canonical Allele Identifier: CA404098730
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11240234A>G (hg19) chr19:g.11129558A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129558A>G , CM000681.2:g.11129558A>G GRCh38
NC_000019.9:g.11240234A>G , CM000681.1:g.11240234A>G GRCh37
NC_000019.8:g.11101234A>G NCBI36
NG_009060.1:g.45178A>G , LRG_274:g.45178A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2693A>G ENSP00000252444.6:p.Asn898Ser
ENST00000559340.2:c.*504A>G ENSP00000453696.2:n.*504A>G
ENST00000560467.2:c.2315A>G ENSP00000453513.2:p.Asn772Ser
ENST00000558518.6:c.2435A>G MANE Select ENSP00000454071.1:p.Asn812Ser
ENST00000252444.9:c.2689A>G
ENST00000455727.6:c.1931A>G ENSP00000397829.2:p.Asn644Ser
ENST00000535915.5:c.2312A>G ENSP00000440520.1:p.Asn771Ser
ENST00000545707.5:c.1901A>G ENSP00000437639.1:p.Asn634Ser
ENST00000557933.5:c.2497A>G ENSP00000453557.1:p.Thr833Ala
ENST00000558013.5:c.2435A>G ENSP00000453346.1:p.Asn812Ser
ENST00000558518.5:c.2435A>G ENSP00000454071.1:p.Asn812Ser
ENST00000560628.1:n.108+1904A>G
NM_000527.4:c.2435A>G , LRG_274t1:c.2435A>G NP_000518.1:p.Asn812Ser
NM_001195798.1:c.2435A>G NP_001182727.1:p.Asn812Ser
NM_001195799.1:c.2312A>G NP_001182728.1:p.Asn771Ser
NM_001195800.1:c.1931A>G NP_001182729.1:p.Asn644Ser
NM_001195803.1:c.1901A>G NP_001182732.1:p.Asn634Ser
XM_011528010.1:c.2357A>G XP_011526312.1:p.Asn786Ser
XM_011528011.1:c.2054A>G XP_011526313.1:p.Asn685Ser
XR_244074.2:n.2445A>G
XM_011528010.2:c.2357A>G XP_011526312.1:p.Asn786Ser
XR_001753685.2:n.2769A>G
XR_001753686.2:n.2412A>G
NM_000527.5:c.2435A>G MANE Select NP_000518.1:p.Asn812Ser
NM_001195798.2:c.2435A>G NP_001182727.1:p.Asn812Ser
NM_001195799.2:c.2312A>G NP_001182728.1:p.Asn771Ser
NM_001195800.2:c.1931A>G NP_001182729.1:p.Asn644Ser
NM_001195803.2:c.1901A>G NP_001182732.1:p.Asn634Ser
Search 100 bp 5'
Search 100 bp 3'