Canonical Allele Identifier: CA030532
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3073101
ClinVar RCV Id: RCV004015115
dbSNP Id: rs72658858

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11107514G>T , CM000681.2:g.11107514G>T GRCh38
NC_000019.9:g.11218190G>T , CM000681.1:g.11218190G>T GRCh37
NC_000019.8:g.11079190G>T NCBI36
NG_009060.1:g.23134G>T , LRG_274:g.23134G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1198G>T ENSP00000252444.6:p.Gly400Trp
ENST00000559340.2:c.940G>T ENSP00000453696.2:p.Gly314Trp
ENST00000560467.2:c.940G>T ENSP00000453513.2:p.Asp314Tyr
ENST00000558518.6:c.940G>T MANE Select ENSP00000454071.1:p.Gly314Trp
ENST00000252444.9:c.1194G>T
ENST00000455727.6:c.436G>T ENSP00000397829.2:p.Gly146Trp
ENST00000535915.5:c.817G>T ENSP00000440520.1:p.Gly273Trp
ENST00000545707.5:c.559G>T ENSP00000437639.1:p.Gly187Trp
ENST00000557933.5:c.940G>T ENSP00000453557.1:p.Gly314Trp
ENST00000558013.5:c.940G>T ENSP00000453346.1:p.Gly314Trp
ENST00000558518.5:c.940G>T ENSP00000454071.1:p.Gly314Trp
ENST00000558528.1:n.455G>T
ENST00000560467.1:c.540G>T
NM_000527.4:c.940G>T , LRG_274t1:c.940G>T NP_000518.1:p.Gly314Trp
NM_001195798.1:c.940G>T NP_001182727.1:p.Gly314Trp
NM_001195799.1:c.817G>T NP_001182728.1:p.Gly273Trp
NM_001195800.1:c.436G>T NP_001182729.1:p.Gly146Trp
NM_001195803.1:c.559G>T NP_001182732.1:p.Gly187Trp
XM_011528010.1:c.940G>T XP_011526312.1:p.Gly314Trp
XM_011528011.1:c.559G>T XP_011526313.1:p.Gly187Trp
XR_244074.2:n.1090G>T
XM_011528010.2:c.940G>T XP_011526312.1:p.Gly314Trp
XR_001753685.2:n.1057G>T
XR_001753686.2:n.1057G>T
NM_000527.5:c.940G>T MANE Select NP_000518.1:p.Gly314Trp
NM_001195798.2:c.940G>T NP_001182727.1:p.Gly314Trp
NM_001195799.2:c.817G>T NP_001182728.1:p.Gly273Trp
NM_001195800.2:c.436G>T NP_001182729.1:p.Gly146Trp
NM_001195803.2:c.559G>T NP_001182732.1:p.Gly187Trp