Canonical Allele Identifier: CA16611230
Gene: REEP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411804
dbSNP Id: rs1060503494

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86264034C>T , CM000664.2:g.86264034C>T GRCh38
NC_000002.11:g.86491157C>T , CM000664.1:g.86491157C>T GRCh37
NC_000002.10:g.86344668C>T NCBI36
NG_013037.1:g.79050G>A , LRG_713:g.79050G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643817.2:c.113G>A ENSP00000495610.2:p.Trp38Ter
ENST00000686220.1:c.32G>A ENSP00000509904.1:p.Trp11Ter
ENST00000688400.1:c.105+18136G>A ENSP00000510490.1:n.105+18136G>A
ENST00000689156.1:c.113G>A ENSP00000509143.1:p.Trp38Ter
ENST00000691093.1:c.3-9220G>A ENSP00000509465.1:n.3-9220G>A
ENST00000691703.1:c.113G>A ENSP00000508496.1:p.Trp38Ter
ENST00000692664.1:c.33-9220G>A ENSP00000508656.1:n.33-9220G>A
ENST00000693329.1:c.113G>A ENSP00000508490.1:p.Trp38Ter
ENST00000453231.6:c.134G>A ENSP00000392197.2:p.Trp45Ter
ENST00000535845.6:c.32G>A ENSP00000437567.1:p.Trp11Ter
ENST00000538924.7:c.113G>A MANE Select ENSP00000438346.3:p.Trp38Ter
ENST00000541910.6:c.113G>A ENSP00000442681.1:p.Trp38Ter
ENST00000642243.1:c.71G>A ENSP00000494960.1:p.Trp24Ter
ENST00000643817.1:c.71G>A ENSP00000495610.1:p.Trp24Ter
ENST00000644644.1:c.71G>A ENSP00000494305.1:p.Trp24Ter
ENST00000165698.9:c.113G>A ENSP00000165698.5:p.Trp38Ter
ENST00000428491.5:c.32G>A ENSP00000400607.1:p.Trp11Ter
ENST00000437769.5:c.113G>A ENSP00000401140.1:p.Trp38Ter
ENST00000453231.5:c.134G>A ENSP00000392197.1:p.Trp45Ter
ENST00000473407.5:n.203G>A
ENST00000475475.1:n.425G>A
ENST00000489855.2:c.49G>A
ENST00000535845.5:c.32G>A ENSP00000437567.1:p.Trp11Ter
ENST00000538924.5:c.134G>A ENSP00000438346.1:p.Trp45Ter
ENST00000541910.5:c.113G>A ENSP00000442681.1:p.Trp38Ter
NM_001164730.1:c.134G>A , LRG_713t1:c.134G>A NP_001158202.1:p.Trp45Ter
NM_001164731.1:c.32G>A NP_001158203.1:p.Trp11Ter
NM_001164732.1:c.113G>A NP_001158204.1:p.Trp38Ter
NM_022912.2:c.113G>A , LRG_713t2:c.113G>A NP_075063.1:p.Trp38Ter
XM_005264502.1:c.113G>A XP_005264559.1:p.Trp38Ter
XM_005264504.1:c.-2G>A XP_005264561.1:n.-2G>A
XM_011533043.1:c.134G>A XP_011531345.1:p.Trp45Ter
XM_011533044.1:c.95G>A XP_011531346.1:p.Trp32Ter
XM_011533045.1:c.89G>A XP_011531347.1:p.Trp30Ter
XM_011533046.1:c.134G>A XP_011531348.1:p.Trp45Ter
XM_005264502.2:c.113G>A XP_005264559.1:p.Trp38Ter
XM_011533045.2:c.89G>A XP_011531347.1:p.Trp30Ter
XM_017004725.1:c.134G>A XP_016860214.1:p.Trp45Ter
XM_017004726.1:c.134G>A XP_016860215.1:p.Trp45Ter
XM_017004727.1:c.134G>A XP_016860216.1:p.Trp45Ter
NM_001164730.2:c.134G>A NP_001158202.1:p.Trp45Ter
NM_001164731.2:c.32G>A NP_001158203.1:p.Trp11Ter
NM_001164732.2:c.113G>A NP_001158204.1:p.Trp38Ter
NM_001371279.1:c.113G>A MANE Select NP_001358208.1:p.Trp38Ter
NM_001371280.1:c.113G>A NP_001358209.1:p.Trp38Ter
NM_022912.3:c.113G>A NP_075063.1:p.Trp38Ter