Canonical Allele Identifier: CA16602297
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375781
dbSNP Id: rs1057519654

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105233C>A , CM000681.2:g.11105233C>A GRCh38
NC_000019.9:g.11215909C>A , CM000681.1:g.11215909C>A GRCh37
NC_000019.8:g.11076909C>A NCBI36
NG_009060.1:g.20853C>A , LRG_274:g.20853C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252444.10:c.585C>A ENSP00000252444.6:p.Cys195Ter
ENST00000559340.2:c.327C>A ENSP00000453696.2:p.Cys109Ter
ENST00000560467.2:c.327C>A ENSP00000453513.2:p.Cys109Ter
ENST00000558518.6:c.327C>A MANE Select ENSP00000454071.1:p.Cys109Ter
ENST00000252444.9:c.581C>A
ENST00000455727.6:c.314-2159C>A ENSP00000397829.2:n.314-2159C>A
ENST00000535915.5:c.204C>A ENSP00000440520.1:p.Cys68Ter
ENST00000545707.5:c.314-1332C>A ENSP00000437639.1:n.314-1332C>A
ENST00000557933.5:c.327C>A ENSP00000453557.1:p.Cys109Ter
ENST00000558013.5:c.327C>A ENSP00000453346.1:p.Cys109Ter
ENST00000558518.5:c.327C>A ENSP00000454071.1:p.Cys109Ter
NM_000527.4:c.327C>A , LRG_274t1:c.327C>A NP_000518.1:p.Cys109Ter
NM_001195798.1:c.327C>A NP_001182727.1:p.Cys109Ter
NM_001195799.1:c.204C>A NP_001182728.1:p.Cys68Ter
NM_001195800.1:c.314-2159C>A NP_001182729.1:n.314-2159C>A
NM_001195803.1:c.314-1332C>A NP_001182732.1:n.314-1332C>A
XM_011528010.1:c.327C>A XP_011526312.1:p.Cys109Ter
XM_011528011.1:c.314-1332C>A XP_011526313.1:n.314-1332C>A
XR_244074.2:n.477C>A
XM_011528010.2:c.327C>A XP_011526312.1:p.Cys109Ter
XR_001753685.2:n.444C>A
XR_001753686.2:n.444C>A
NM_000527.5:c.327C>A MANE Select NP_000518.1:p.Cys109Ter
NM_001195798.2:c.327C>A NP_001182727.1:p.Cys109Ter
NM_001195799.2:c.204C>A NP_001182728.1:p.Cys68Ter
NM_001195800.2:c.314-2159C>A NP_001182729.1:n.314-2159C>A
NM_001195803.2:c.314-1332C>A NP_001182732.1:n.314-1332C>A