Canonical Allele Identifier: CA404083401
Gene: LDLR HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.11222233C>G (hg19) chr19:g.11111557C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11111557C>G , CM000681.2:g.11111557C>G GRCh38
NC_000019.9:g.11222233C>G , CM000681.1:g.11222233C>G GRCh37
NC_000019.8:g.11083233C>G NCBI36
NG_009060.1:g.27177C>G , LRG_274:g.27177C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1362C>G ENSP00000252444.6:p.Cys454Trp
ENST00000559340.2:c.1104C>G ENSP00000453696.2:p.Cys368Trp
ENST00000560467.2:c.984C>G ENSP00000453513.2:p.Cys328Trp
ENST00000558518.6:c.1104C>G MANE Select ENSP00000454071.1:p.Cys368Trp
ENST00000252444.9:c.1358C>G
ENST00000455727.6:c.600C>G ENSP00000397829.2:p.Cys200Trp
ENST00000535915.5:c.981C>G ENSP00000440520.1:p.Cys327Trp
ENST00000545707.5:c.723C>G ENSP00000437639.1:p.Cys241Trp
ENST00000557933.5:c.1104C>G ENSP00000453557.1:p.Cys368Trp
ENST00000558013.5:c.1104C>G ENSP00000453346.1:p.Cys368Trp
ENST00000558518.5:c.1104C>G ENSP00000454071.1:p.Cys368Trp
ENST00000560173.1:n.103C>G
ENST00000560467.1:c.584C>G
NM_000527.4:c.1104C>G , LRG_274t1:c.1104C>G NP_000518.1:p.Cys368Trp
NM_001195798.1:c.1104C>G NP_001182727.1:p.Cys368Trp
NM_001195799.1:c.981C>G NP_001182728.1:p.Cys327Trp
NM_001195800.1:c.600C>G NP_001182729.1:p.Cys200Trp
NM_001195803.1:c.723C>G NP_001182732.1:p.Cys241Trp
XM_011528010.1:c.1104C>G XP_011526312.1:p.Cys368Trp
XM_011528011.1:c.723C>G XP_011526313.1:p.Cys241Trp
XR_244074.2:n.1254C>G
XM_011528010.2:c.1104C>G XP_011526312.1:p.Cys368Trp
XR_001753685.2:n.1221C>G
XR_001753686.2:n.1221C>G
NM_000527.5:c.1104C>G MANE Select NP_000518.1:p.Cys368Trp
NM_001195798.2:c.1104C>G NP_001182727.1:p.Cys368Trp
NM_001195799.2:c.981C>G NP_001182728.1:p.Cys327Trp
NM_001195800.2:c.600C>G NP_001182729.1:p.Cys200Trp
NM_001195803.2:c.723C>G NP_001182732.1:p.Cys241Trp
Search 100 bp 5'
Search 100 bp 3'