Canonical Allele Identifier: CA404093796
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120456C>T , CM000681.2:g.11120456C>T GRCh38
NC_000019.9:g.11231132C>T , CM000681.1:g.11231132C>T GRCh37
NC_000019.8:g.11092132C>T NCBI36
NG_009060.1:g.36076C>T , LRG_274:g.36076C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2332C>T ENSP00000252444.6:p.Pro778Ser
ENST00000559340.2:c.*143C>T ENSP00000453696.2:n.*143C>T
ENST00000560467.2:c.1954C>T ENSP00000453513.2:p.Pro652Ser
ENST00000558518.6:c.2074C>T MANE Select ENSP00000454071.1:p.Pro692Ser
ENST00000252444.9:c.2328C>T
ENST00000455727.6:c.1570C>T ENSP00000397829.2:p.Pro524Ser
ENST00000535915.5:c.1951C>T ENSP00000440520.1:p.Pro651Ser
ENST00000545707.5:c.1606+223C>T ENSP00000437639.1:n.1606+223C>T
ENST00000557933.5:c.2074C>T ENSP00000453557.1:p.Pro692Ser
ENST00000558013.5:c.2074C>T ENSP00000453346.1:p.Pro692Ser
ENST00000558518.5:c.2074C>T ENSP00000454071.1:p.Pro692Ser
NM_000527.4:c.2074C>T , LRG_274t1:c.2074C>T NP_000518.1:p.Pro692Ser
NM_001195798.1:c.2074C>T NP_001182727.1:p.Pro692Ser
NM_001195799.1:c.1951C>T NP_001182728.1:p.Pro651Ser
NM_001195800.1:c.1570C>T NP_001182729.1:p.Pro524Ser
NM_001195803.1:c.1606+223C>T NP_001182732.1:n.1606+223C>T
XM_011528010.1:c.2074C>T XP_011526312.1:p.Pro692Ser
XM_011528011.1:c.1693C>T XP_011526313.1:p.Pro565Ser
XR_244074.2:n.2084C>T
XM_011528010.2:c.2074C>T XP_011526312.1:p.Pro692Ser
XR_001753685.2:n.2191C>T
XR_001753686.2:n.2051C>T
NM_000527.5:c.2074C>T MANE Select NP_000518.1:p.Pro692Ser
NM_001195798.2:c.2074C>T NP_001182727.1:p.Pro692Ser
NM_001195799.2:c.1951C>T NP_001182728.1:p.Pro651Ser
NM_001195800.2:c.1570C>T NP_001182729.1:p.Pro524Ser
NM_001195803.2:c.1606+223C>T NP_001182732.1:n.1606+223C>T