Canonical Allele Identifier: CA404096604
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11128013G>T , CM000681.2:g.11128013G>T GRCh38
NC_000019.9:g.11238689G>T , CM000681.1:g.11238689G>T GRCh37
NC_000019.8:g.11099689G>T NCBI36
NG_009060.1:g.43633G>T , LRG_274:g.43633G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2575G>T ENSP00000252444.6:p.Gly859Cys
ENST00000559340.2:c.*386G>T ENSP00000453696.2:n.*386G>T
ENST00000560467.2:c.2197G>T ENSP00000453513.2:p.Gly733Cys
ENST00000558518.6:c.2317G>T MANE Select ENSP00000454071.1:p.Gly773Cys
ENST00000252444.9:c.2571G>T
ENST00000455727.6:c.1813G>T ENSP00000397829.2:p.Gly605Cys
ENST00000535915.5:c.2194G>T ENSP00000440520.1:p.Gly732Cys
ENST00000545707.5:c.1783G>T ENSP00000437639.1:p.Gly595Cys
ENST00000557933.5:c.2317G>T ENSP00000453557.1:p.Gly773Cys
ENST00000558013.5:c.2317G>T ENSP00000453346.1:p.Gly773Cys
ENST00000558518.5:c.2317G>T ENSP00000454071.1:p.Gly773Cys
ENST00000560628.1:n.108+359G>T
NM_000527.4:c.2317G>T , LRG_274t1:c.2317G>T NP_000518.1:p.Gly773Cys
NM_001195798.1:c.2317G>T NP_001182727.1:p.Gly773Cys
NM_001195799.1:c.2194G>T NP_001182728.1:p.Gly732Cys
NM_001195800.1:c.1813G>T NP_001182729.1:p.Gly605Cys
NM_001195803.1:c.1783G>T NP_001182732.1:p.Gly595Cys
XM_011528010.1:c.2312-1500G>T XP_011526312.1:n.2312-1500G>T
XM_011528011.1:c.1936G>T XP_011526313.1:p.Gly646Cys
XR_244074.2:n.2327G>T
XM_011528010.2:c.2312-1500G>T XP_011526312.1:n.2312-1500G>T
XR_001753685.2:n.2651G>T
XR_001753686.2:n.2294G>T
NM_000527.5:c.2317G>T MANE Select NP_000518.1:p.Gly773Cys
NM_001195798.2:c.2317G>T NP_001182727.1:p.Gly773Cys
NM_001195799.2:c.2194G>T NP_001182728.1:p.Gly732Cys
NM_001195800.2:c.1813G>T NP_001182729.1:p.Gly605Cys
NM_001195803.2:c.1783G>T NP_001182732.1:p.Gly595Cys