Canonical Allele Identifier: CA347547484
Community Standard Title: NM_001371279.1(REEP1):c.460C>T (p.Gln154Ter)
Gene: REEP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.86232760G>A , CM000664.2:g.86232760G>A GRCh38
NC_000002.11:g.86459883G>A , CM000664.1:g.86459883G>A GRCh37
NC_000002.10:g.86313394G>A NCBI36
NG_013037.1:g.110324C>T , LRG_713:g.110324C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001371279.1:c.460C>T MANE Select NP_001358208.1:p.Gln154Ter
ENST00000538924.7:c.460C>T MANE Select ENSP00000438346.3:p.Gln154Ter
NM_001164730.1:c.481C>T , LRG_713t1:c.481C>T NP_001158202.1:p.Gln161Ter
NM_001164730.2:c.481C>T NP_001158202.1:p.Gln161Ter
NM_001164731.1:c.379C>T NP_001158203.1:p.Gln127Ter
NM_001164731.2:c.379C>T NP_001158203.1:p.Gln127Ter
NM_001164732.1:c.225C>T NP_001158204.1:p.Cys75=
NM_001164732.2:c.225C>T NP_001158204.1:p.Cys75=
NM_001371280.1:c.418-15650C>T NP_001358209.1:n.418-15650C>T
NM_022912.2:c.460C>T , LRG_713t2:c.460C>T NP_075063.1:p.Gln154Ter
NM_022912.3:c.460C>T NP_075063.1:p.Gln154Ter
ENST00000165698.9:c.460C>T ENSP00000165698.5:p.Gln154Ter
ENST00000428491.5:c.379C>T ENSP00000400607.1:p.Gln127Ter
ENST00000437769.5:c.225C>T ENSP00000401140.1:p.Cys75=
ENST00000453231.5:c.481C>T ENSP00000392197.1:p.Gln161Ter
ENST00000453231.6:c.481C>T ENSP00000392197.2:p.Gln161Ter
ENST00000473407.5:n.550C>T
ENST00000490915.5:n.482C>T
ENST00000535845.5:c.379C>T ENSP00000437567.1:p.Gln127Ter
ENST00000535845.6:c.379C>T ENSP00000437567.1:p.Gln127Ter
ENST00000538924.5:c.481C>T ENSP00000438346.1:p.Gln161Ter
ENST00000541910.5:c.225C>T ENSP00000442681.1:p.Cys75=
ENST00000541910.6:c.225C>T ENSP00000442681.1:p.Cys75=
ENST00000642243.1:c.568C>T ENSP00000494960.1:p.Gln190Ter
ENST00000643817.1:c.418C>T ENSP00000495610.1:p.Gln140Ter
ENST00000643817.2:c.460C>T ENSP00000495610.2:p.Gln154Ter
ENST00000644644.1:c.469C>T ENSP00000494305.1:p.Gln157Ter
ENST00000686220.1:c.379C>T ENSP00000509904.1:p.Gln127Ter
ENST00000688400.1:c.148C>T ENSP00000510490.1:p.Gln50Ter
ENST00000689156.1:c.418-15650C>T ENSP00000509143.1:n.418-15650C>T
ENST00000691093.1:c.280C>T ENSP00000509465.1:p.Gln94Ter
ENST00000691703.1:c.460C>T ENSP00000508496.1:p.Gln154Ter
ENST00000692664.1:c.310C>T ENSP00000508656.1:p.Gln104Ter
ENST00000693329.1:c.460C>T ENSP00000508490.1:p.Gln154Ter
XM_005264502.1:c.460C>T XP_005264559.1:p.Gln154Ter
XM_005264502.2:c.460C>T XP_005264559.1:p.Gln154Ter
XM_005264504.1:c.346C>T XP_005264561.1:p.Gln116Ter
XM_011533043.1:c.481C>T XP_011531345.1:p.Gln161Ter
XM_011533044.1:c.442C>T XP_011531346.1:p.Gln148Ter
XM_011533045.1:c.436C>T XP_011531347.1:p.Gln146Ter
XM_011533045.2:c.436C>T XP_011531347.1:p.Gln146Ter
XM_011533046.1:c.481C>T XP_011531348.1:p.Gln161Ter
XM_017004725.1:c.481C>T XP_016860214.1:p.Gln161Ter
XM_017004726.1:c.481C>T XP_016860215.1:p.Gln161Ter
XM_017004727.1:c.481C>T XP_016860216.1:p.Gln161Ter