Canonical Allele Identifier: CA695698
Gene: LDLRAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 296986
dbSNP Id: rs41291058
gnomAD v2: 1-25890247-C-T
gnomAD v3: 1-25563756-C-T
gnomAD v4: 1-25563756-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25563756C>T , CM000663.2:g.25563756C>T GRCh38
NC_000001.10:g.25890247C>T , CM000663.1:g.25890247C>T GRCh37
NC_000001.9:g.25762834C>T NCBI36
NG_008932.1:g.25172C>T , LRG_276:g.25172C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374338.5:c.712C>T MANE Select ENSP00000363458.4:p.Arg238Trp
ENST00000374338.4:c.712C>T ENSP00000363458.4:p.Arg238Trp
ENST00000474283.1:n.123C>T
ENST00000484476.5:n.434C>T
ENST00000488127.1:n.1182C>T
NM_015627.2:c.712C>T , LRG_276t1:c.712C>T NP_056442.2:p.Arg238Trp
XM_006710559.2:c.712C>T XP_006710622.1:p.Arg238Trp
XM_006710560.2:c.712C>T XP_006710623.1:p.Arg238Trp
XM_006710561.2:c.712C>T XP_006710624.1:p.Arg238Trp
XM_011541209.1:c.712C>T XP_011539511.1:p.Arg238Trp
XM_011541210.1:c.712C>T XP_011539512.1:p.Arg238Trp
XM_011541211.1:c.712C>T XP_011539513.1:p.Arg238Trp
XM_011541212.1:c.712C>T XP_011539514.1:p.Arg238Trp
XR_426598.2:n.831C>T
XR_946602.1:n.831C>T
XR_946603.1:n.831C>T
XM_006710559.4:c.712C>T XP_006710622.1:p.Arg238Trp
XM_006710560.4:c.712C>T XP_006710623.1:p.Arg238Trp
XM_006710561.4:c.712C>T XP_006710624.1:p.Arg238Trp
XM_011541209.3:c.712C>T XP_011539511.1:p.Arg238Trp
XM_011541210.3:c.712C>T XP_011539512.1:p.Arg238Trp
XM_011541211.3:c.712C>T XP_011539513.1:p.Arg238Trp
XM_011541212.3:c.712C>T XP_011539514.1:p.Arg238Trp
XM_017000994.2:c.631C>T XP_016856483.1:p.Arg211Trp
XM_017000995.2:c.459+6489C>T XP_016856484.1:n.459+6489C>T
XM_024446315.1:c.577C>T XP_024302083.1:p.Arg193Trp
XR_001737112.2:n.782C>T
XR_001737113.2:n.782C>T
XR_002956258.1:n.782C>T
XR_426598.4:n.782C>T
XR_946602.3:n.782C>T
XR_946603.3:n.782C>T
NM_015627.3:c.712C>T MANE Select NP_056442.2:p.Arg238Trp