Canonical Allele Identifier: CA1159701173
Gene: LDLRAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1792217
ClinVar RCV Id: RCV002455605
dbSNP Id: rs2043857269

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25543722dup , CM000663.2:g.25543722dup GRCh38
NC_000001.10:g.25870213dup , CM000663.1:g.25870213dup GRCh37
NC_000001.9:g.25742800dup NCBI36
NG_008932.1:g.5138dup , LRG_276:g.5138dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374338.5:c.24dup MANE Select ENSP00000363458.4:p.Arg9AlafsTer25
ENST00000374338.4:c.24dup ENSP00000363458.4:p.Arg9AlafsTer25
NM_015627.2:c.24dup , LRG_276t1:c.24dup NP_056442.2:p.Arg9AlafsTer25
XM_006710559.2:c.24dup XP_006710622.1:p.Arg9AlafsTer25
XM_006710560.2:c.24dup XP_006710623.1:p.Arg9AlafsTer25
XM_006710561.2:c.24dup XP_006710624.1:p.Arg9AlafsTer25
XM_011541209.1:c.24dup XP_011539511.1:p.Arg9AlafsTer25
XM_011541210.1:c.24dup XP_011539512.1:p.Arg9AlafsTer25
XM_011541211.1:c.24dup XP_011539513.1:p.Arg9AlafsTer25
XM_011541212.1:c.24dup XP_011539514.1:p.Arg9AlafsTer25
XR_426598.2:n.143dup
XR_946602.1:n.143dup
XR_946603.1:n.143dup
XM_006710559.4:c.24dup XP_006710622.1:p.Arg9AlafsTer25
XM_006710560.4:c.24dup XP_006710623.1:p.Arg9AlafsTer25
XM_006710561.4:c.24dup XP_006710624.1:p.Arg9AlafsTer25
XM_011541209.3:c.24dup XP_011539511.1:p.Arg9AlafsTer25
XM_011541210.3:c.24dup XP_011539512.1:p.Arg9AlafsTer25
XM_011541211.3:c.24dup XP_011539513.1:p.Arg9AlafsTer25
XM_011541212.3:c.24dup XP_011539514.1:p.Arg9AlafsTer25
XM_017000995.2:c.24dup XP_016856484.1:p.Arg9AlafsTer25
XR_001737112.2:n.94dup
XR_001737113.2:n.94dup
XR_002956258.1:n.94dup
XR_426598.4:n.94dup
XR_946602.3:n.94dup
XR_946603.3:n.94dup
NM_015627.3:c.24dup MANE Select NP_056442.2:p.Arg9AlafsTer25