Canonical Allele Identifier: CA404098932
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11129576T>A , CM000681.2:g.11129576T>A GRCh38
NC_000019.9:g.11240252T>A , CM000681.1:g.11240252T>A GRCh37
NC_000019.8:g.11101252T>A NCBI36
NG_009060.1:g.45196T>A , LRG_274:g.45196T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2711T>A ENSP00000252444.6:p.Ile904Asn
ENST00000559340.2:c.*522T>A ENSP00000453696.2:n.*522T>A
ENST00000560467.2:c.2333T>A ENSP00000453513.2:p.Ile778Asn
ENST00000558518.6:c.2453T>A MANE Select ENSP00000454071.1:p.Ile818Asn
ENST00000252444.9:c.2707T>A
ENST00000455727.6:c.1949T>A ENSP00000397829.2:p.Ile650Asn
ENST00000535915.5:c.2330T>A ENSP00000440520.1:p.Ile777Asn
ENST00000545707.5:c.1919T>A ENSP00000437639.1:p.Ile640Asn
ENST00000557933.5:c.2515T>A ENSP00000453557.1:p.Ser839Thr
ENST00000558013.5:c.2453T>A ENSP00000453346.1:p.Ile818Asn
ENST00000558518.5:c.2453T>A ENSP00000454071.1:p.Ile818Asn
ENST00000560628.1:n.108+1922T>A
NM_000527.4:c.2453T>A , LRG_274t1:c.2453T>A NP_000518.1:p.Ile818Asn
NM_001195798.1:c.2453T>A NP_001182727.1:p.Ile818Asn
NM_001195799.1:c.2330T>A NP_001182728.1:p.Ile777Asn
NM_001195800.1:c.1949T>A NP_001182729.1:p.Ile650Asn
NM_001195803.1:c.1919T>A NP_001182732.1:p.Ile640Asn
XM_011528010.1:c.2375T>A XP_011526312.1:p.Ile792Asn
XM_011528011.1:c.2072T>A XP_011526313.1:p.Ile691Asn
XM_011528010.2:c.2375T>A XP_011526312.1:p.Ile792Asn
XR_001753685.2:n.2787T>A
XR_001753686.2:n.2430T>A
NM_000527.5:c.2453T>A MANE Select NP_000518.1:p.Ile818Asn
NM_001195798.2:c.2453T>A NP_001182727.1:p.Ile818Asn
NM_001195799.2:c.2330T>A NP_001182728.1:p.Ile777Asn
NM_001195800.2:c.1949T>A NP_001182729.1:p.Ile650Asn
NM_001195803.2:c.1919T>A NP_001182732.1:p.Ile640Asn