Canonical Allele Identifier: CA404082735
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 986739
ClinVar RCV Id: RCV001267841
dbSNP Id: rs879254755
gnomAD v4: 19-11110725-C-G
MyVariant Identifiers: chr19:g.11221401C>G (hg19) chr19:g.11110725C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110725C>G , CM000681.2:g.11110725C>G GRCh38
NC_000019.9:g.11221401C>G , CM000681.1:g.11221401C>G GRCh37
NC_000019.8:g.11082401C>G NCBI36
NG_009060.1:g.26345C>G , LRG_274:g.26345C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1272C>G ENSP00000252444.6:p.Cys424Trp
ENST00000559340.2:c.1014C>G ENSP00000453696.2:p.Cys338Trp
ENST00000560467.2:c.941-789C>G ENSP00000453513.2:n.941-789C>G
ENST00000558518.6:c.1014C>G MANE Select ENSP00000454071.1:p.Cys338Trp
ENST00000252444.9:c.1268C>G
ENST00000455727.6:c.510C>G ENSP00000397829.2:p.Cys170Trp
ENST00000535915.5:c.891C>G ENSP00000440520.1:p.Cys297Trp
ENST00000545707.5:c.633C>G ENSP00000437639.1:p.Cys211Trp
ENST00000557933.5:c.1014C>G ENSP00000453557.1:p.Cys338Trp
ENST00000558013.5:c.1014C>G ENSP00000453346.1:p.Cys338Trp
ENST00000558518.5:c.1014C>G ENSP00000454071.1:p.Cys338Trp
ENST00000560173.1:n.13C>G
ENST00000560467.1:c.541-789C>G
NM_000527.4:c.1014C>G , LRG_274t1:c.1014C>G NP_000518.1:p.Cys338Trp
NM_001195798.1:c.1014C>G NP_001182727.1:p.Cys338Trp
NM_001195799.1:c.891C>G NP_001182728.1:p.Cys297Trp
NM_001195800.1:c.510C>G NP_001182729.1:p.Cys170Trp
NM_001195803.1:c.633C>G NP_001182732.1:p.Cys211Trp
XM_011528010.1:c.1014C>G XP_011526312.1:p.Cys338Trp
XM_011528011.1:c.633C>G XP_011526313.1:p.Cys211Trp
XR_244074.2:n.1164C>G
XM_011528010.2:c.1014C>G XP_011526312.1:p.Cys338Trp
XR_001753685.2:n.1131C>G
XR_001753686.2:n.1131C>G
NM_000527.5:c.1014C>G MANE Select NP_000518.1:p.Cys338Trp
NM_001195798.2:c.1014C>G NP_001182727.1:p.Cys338Trp
NM_001195799.2:c.891C>G NP_001182728.1:p.Cys297Trp
NM_001195800.2:c.510C>G NP_001182729.1:p.Cys170Trp
NM_001195803.2:c.633C>G NP_001182732.1:p.Cys211Trp
Search 100 bp 5'
Search 100 bp 3'