Canonical Allele Identifier: CA10584968
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251277
dbSNP Id: rs769318035

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11105425C>G , CM000681.2:g.11105425C>G GRCh38
NC_000019.9:g.11216101C>G , CM000681.1:g.11216101C>G GRCh37
NC_000019.8:g.11077101C>G NCBI36
NG_009060.1:g.21045C>G , LRG_274:g.21045C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.777C>G ENSP00000252444.6:p.Cys259Trp
ENST00000559340.2:c.519C>G ENSP00000453696.2:p.Cys173Trp
ENST00000560467.2:c.519C>G ENSP00000453513.2:p.Cys173Trp
ENST00000558518.6:c.519C>G MANE Select ENSP00000454071.1:p.Cys173Trp
ENST00000252444.9:c.773C>G
ENST00000455727.6:c.314-1967C>G ENSP00000397829.2:n.314-1967C>G
ENST00000535915.5:c.396C>G ENSP00000440520.1:p.Cys132Trp
ENST00000545707.5:c.314-1140C>G ENSP00000437639.1:n.314-1140C>G
ENST00000557933.5:c.519C>G ENSP00000453557.1:p.Cys173Trp
ENST00000558013.5:c.519C>G ENSP00000453346.1:p.Cys173Trp
ENST00000558518.5:c.519C>G ENSP00000454071.1:p.Cys173Trp
ENST00000560467.1:c.119C>G
NM_000527.4:c.519C>G , LRG_274t1:c.519C>G NP_000518.1:p.Cys173Trp
NM_001195798.1:c.519C>G NP_001182727.1:p.Cys173Trp
NM_001195799.1:c.396C>G NP_001182728.1:p.Cys132Trp
NM_001195800.1:c.314-1967C>G NP_001182729.1:n.314-1967C>G
NM_001195803.1:c.314-1140C>G NP_001182732.1:n.314-1140C>G
XM_011528010.1:c.519C>G XP_011526312.1:p.Cys173Trp
XM_011528011.1:c.314-1140C>G XP_011526313.1:n.314-1140C>G
XR_244074.2:n.669C>G
XM_011528010.2:c.519C>G XP_011526312.1:p.Cys173Trp
XR_001753685.2:n.636C>G
XR_001753686.2:n.636C>G
NM_000527.5:c.519C>G MANE Select NP_000518.1:p.Cys173Trp
NM_001195798.2:c.519C>G NP_001182727.1:p.Cys173Trp
NM_001195799.2:c.396C>G NP_001182728.1:p.Cys132Trp
NM_001195800.2:c.314-1967C>G NP_001182729.1:n.314-1967C>G
NM_001195803.2:c.314-1140C>G NP_001182732.1:n.314-1140C>G