Canonical Allele Identifier: CA16621755
Gene: REEP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425209
ClinVar RCV Id: RCV000488112
dbSNP Id: rs1064797257

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86282169C>T , CM000664.2:g.86282169C>T GRCh38
NC_000002.11:g.86509292C>T , CM000664.1:g.86509292C>T GRCh37
NC_000002.10:g.86362803C>T NCBI36
NG_013037.1:g.60915G>A , LRG_713:g.60915G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000643817.2:c.105+1G>A ENSP00000495610.2:n.105+1G>A
ENST00000686220.1:c.25-18128G>A ENSP00000509904.1:n.25-18128G>A
ENST00000688400.1:c.105+1G>A ENSP00000510490.1:n.105+1G>A
ENST00000689156.1:c.105+1G>A ENSP00000509143.1:n.105+1G>A
ENST00000691093.1:c.2+1G>A ENSP00000509465.1:n.2+1G>A
ENST00000691703.1:c.105+1G>A ENSP00000508496.1:n.105+1G>A
ENST00000692664.1:c.33-27355G>A ENSP00000508656.1:n.33-27355G>A
ENST00000693329.1:c.105+1G>A ENSP00000508490.1:n.105+1G>A
ENST00000453231.6:c.126+1G>A ENSP00000392197.2:n.126+1G>A
ENST00000535845.6:c.25-18128G>A ENSP00000437567.1:n.25-18128G>A
ENST00000538924.7:c.105+1G>A MANE Select ENSP00000438346.3:n.105+1G>A
ENST00000541910.6:c.105+1G>A ENSP00000442681.1:n.105+1G>A
ENST00000642243.1:c.63+1G>A ENSP00000494960.1:n.63+1G>A
ENST00000643817.1:c.63+1G>A ENSP00000495610.1:n.63+1G>A
ENST00000644644.1:c.63+1G>A ENSP00000494305.1:n.63+1G>A
ENST00000165698.9:c.105+1G>A ENSP00000165698.5:n.105+1G>A
ENST00000428491.5:c.25-18128G>A ENSP00000400607.1:n.25-18128G>A
ENST00000437769.5:c.105+1G>A ENSP00000401140.1:n.105+1G>A
ENST00000453231.5:c.126+1G>A ENSP00000392197.1:n.126+1G>A
ENST00000473407.5:n.195+1G>A
ENST00000475475.1:n.417+1G>A
ENST00000489855.2:c.41+1G>A
ENST00000535845.5:c.25-18128G>A ENSP00000437567.1:n.25-18128G>A
ENST00000538924.5:c.126+1G>A ENSP00000438346.1:n.126+1G>A
ENST00000541910.5:c.105+1G>A ENSP00000442681.1:n.105+1G>A
NM_001164730.1:c.126+1G>A , LRG_713t1:c.126+1G>A NP_001158202.1:n.126+1G>A
NM_001164731.1:c.25-18128G>A NP_001158203.1:n.25-18128G>A
NM_001164732.1:c.105+1G>A NP_001158204.1:n.105+1G>A
NM_022912.2:c.105+1G>A , LRG_713t2:c.105+1G>A NP_075063.1:n.105+1G>A
XM_005264502.1:c.105+1G>A XP_005264559.1:n.105+1G>A
XM_005264504.1:c.-10+1G>A XP_005264561.1:n.-10+1G>A
XM_011533043.1:c.126+1G>A XP_011531345.1:n.126+1G>A
XM_011533044.1:c.87+1G>A XP_011531346.1:n.87+1G>A
XM_011533045.1:c.81+1G>A XP_011531347.1:n.81+1G>A
XM_011533046.1:c.126+1G>A XP_011531348.1:n.126+1G>A
XM_005264502.2:c.105+1G>A XP_005264559.1:n.105+1G>A
XM_011533045.2:c.81+1G>A XP_011531347.1:n.81+1G>A
XM_017004725.1:c.126+1G>A XP_016860214.1:n.126+1G>A
XM_017004726.1:c.126+1G>A XP_016860215.1:n.126+1G>A
XM_017004727.1:c.126+1G>A XP_016860216.1:n.126+1G>A
NM_001164730.2:c.126+1G>A NP_001158202.1:n.126+1G>A
NM_001164731.2:c.25-18128G>A NP_001158203.1:n.25-18128G>A
NM_001164732.2:c.105+1G>A NP_001158204.1:n.105+1G>A
NM_001371279.1:c.105+1G>A MANE Select NP_001358208.1:n.105+1G>A
NM_001371280.1:c.105+1G>A NP_001358209.1:n.105+1G>A
NM_022912.3:c.105+1G>A NP_075063.1:n.105+1G>A