Canonical Allele Identifier: CA404083159
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111527T>A , CM000681.2:g.11111527T>A GRCh38
NC_000019.9:g.11222203T>A , CM000681.1:g.11222203T>A GRCh37
NC_000019.8:g.11083203T>A NCBI36
NG_009060.1:g.27147T>A , LRG_274:g.27147T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1332T>A ENSP00000252444.6:p.Cys444Ter
ENST00000559340.2:c.1074T>A ENSP00000453696.2:p.Cys358Ter
ENST00000560467.2:c.954T>A ENSP00000453513.2:p.Cys318Ter
ENST00000558518.6:c.1074T>A MANE Select ENSP00000454071.1:p.Cys358Ter
ENST00000252444.9:c.1328T>A
ENST00000455727.6:c.570T>A ENSP00000397829.2:p.Cys190Ter
ENST00000535915.5:c.951T>A ENSP00000440520.1:p.Cys317Ter
ENST00000545707.5:c.693T>A ENSP00000437639.1:p.Cys231Ter
ENST00000557933.5:c.1074T>A ENSP00000453557.1:p.Cys358Ter
ENST00000558013.5:c.1074T>A ENSP00000453346.1:p.Cys358Ter
ENST00000558518.5:c.1074T>A ENSP00000454071.1:p.Cys358Ter
ENST00000560173.1:n.73T>A
ENST00000560467.1:c.554T>A
NM_000527.4:c.1074T>A , LRG_274t1:c.1074T>A NP_000518.1:p.Cys358Ter
NM_001195798.1:c.1074T>A NP_001182727.1:p.Cys358Ter
NM_001195799.1:c.951T>A NP_001182728.1:p.Cys317Ter
NM_001195800.1:c.570T>A NP_001182729.1:p.Cys190Ter
NM_001195803.1:c.693T>A NP_001182732.1:p.Cys231Ter
XM_011528010.1:c.1074T>A XP_011526312.1:p.Cys358Ter
XM_011528011.1:c.693T>A XP_011526313.1:p.Cys231Ter
XR_244074.2:n.1224T>A
XM_011528010.2:c.1074T>A XP_011526312.1:p.Cys358Ter
XR_001753685.2:n.1191T>A
XR_001753686.2:n.1191T>A
NM_000527.5:c.1074T>A MANE Select NP_000518.1:p.Cys358Ter
NM_001195798.2:c.1074T>A NP_001182727.1:p.Cys358Ter
NM_001195799.2:c.951T>A NP_001182728.1:p.Cys317Ter
NM_001195800.2:c.570T>A NP_001182729.1:p.Cys190Ter
NM_001195803.2:c.693T>A NP_001182732.1:p.Cys231Ter